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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessChoroideremia, differential diagnosis

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Summary

Short information

A comprehensive differential diagnostic gene panel for Choroideremia containing 1 core gene, 8 core candidate genes and altogether >90 genes according to the clinical supicion

ID
CP6000
Number of genes
11 Accredited laboratory test
Examined sequence length
18,4 kb (Core-/Core-canditate-Genes)
39,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
CHM1962NM_000390.4XL
CYP4V21578NM_207352.4AR
GPR1431215NM_000273.3XL
MYO7A6648NM_000260.4AR
OAT1320NM_000274.4AR
RPE651602NM_000329.3AR
RPGR2448NM_000328.3XL
TYR1590NM_000372.5AR
CRB14221NM_201253.3AR
RHO1047NM_000539.3AD, AR
USH2A15609NM_206933.4AR

Informations about the disease

Clinical Comment

Choroideremia is characterized by progressive vision loss, mainly affecting males. The first symptom is usually night blindness, sometimes already in early childhood. This is followed by tunnel vision and a decrease in visual acuity. These problems are due to atrophy of the retinal cells and loss of the choroid. The visual impairment worsens over time, and the course varies inter-individually. Eventually, blindness occurs in all affected individuals, most commonly in late adulthood. Mutations in the CHM gene cause choroideremia, which is inherited in an X-linked pattern. Females with a single CHM mutation may have small areas of retinal cell loss that are detected during particularly thorough eye examinations. These changes can affect vision later in life. A very detailed differential diagnosis may include several dozen genes whose dysfunctions affect retinal integrity. Because the diagnostic yield using molecular genetics is not 100%, a negative DNA test result cannot safely rule out clinical suspicion.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1337/

 

Synonyms
  • Alias: Choroidal sclerosis
  • Alias: Tapetochroidal dystrophy, progressive
  • Allelic: Bardet-Biedl syndrome 1, modifier of (ARL6)
  • Allelic: Bardet-Biedl syndrome 2 (BBS2)
  • Allelic: Bardet-Biedl syndrome 20 (IFT172)
  • Allelic: Bardet-Biedl syndrome 21 (CFAP418)
  • Allelic: Bardet-Biedl syndrome 3 (ARL6)
  • Allelic: Bardet-Biedl syndrome 8 (TTC8)
  • Allelic: COACH syndrome 2 (CC2D2A)
  • Allelic: Congenital disorder of glycosylation, type 1bb (DHDDS)
  • Allelic: Cranioectodermal dysplasia 3 (IFT143)
  • Allelic: Deafness, AD 11 (MYO7A)
  • Allelic: Deafness, AR 12 (CDH23)
  • Allelic: Deafness, AR 18A (USH1C)
  • Allelic: Deafness, AR 2 (MYO7A)
  • Allelic: Deafness, AR 23 (PCDH15)
  • Allelic: Deafness, AR 48 (CIB2)
  • Allelic: Developmental delay + seizures +/- movement abnormalities (DHDDS)
  • Allelic: Hemolytic anemia due to hexokinase deficiency (HK1)
  • Allelic: Joubert syndrome 10 (OFD1)
  • Allelic: Joubert syndrome 35 (ARL3)
  • Allelic: Joubert syndrome 9 (CC2D2A)
  • Allelic: Leber congenital amaurosis 11 (IMPDH1)
  • Allelic: Leber congenital amaurosis 15 (TULP1)
  • Allelic: Leber congenital amaurosis 18 (PRPH2)
  • Allelic: Leber congenital amaurosis 2 (RPE65)
  • Allelic: Leber congenital amaurosis 3 (SPATA7)
  • Allelic: Leber congenital amaurosis 8 (CRB1)
  • Allelic: Meckel syndrome 6 (CC2D2A)
  • Allelic: Melanoma, cutaneous malignant, susceptibility to, 8 (TYR)
  • Allelic: Microcornea, rod-cone dystrophy, cataract + posterior staphyloma 2 (BEST1)
  • Allelic: Mucopolysaccharidosis type IIIC, Sanfilippo C (HGSNAT)
  • Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 3 (POMGNT1)
  • Allelic: Neurodevelopmental disorder with visual defects + brain anomalies (HK1)
  • Allelic: Neuropathy, hereditary motor + sensory, Russe type (HK1)
  • Allelic: Night blindness, congenital stationary, AD 1 (RHO)
  • Allelic: Night blindness, congenital stationary, AD 2 (PDE6B)
  • Allelic: Nystagmus 6, congenital, XL (GPT143)
  • Allelic: Oguchi disease-1 (SAG)
  • Allelic: Orofaciodigital syndrome I (OFD1)
  • Allelic: PERCHING syndrome (KLHL7)
  • Allelic: Pituitary adenoma 5, multiple types (CDH23)
  • Allelic: Short-rib thoracic dysplasia 10 +/- polydactyly (IFT172)
  • Allelic: Short-rib thoracic dysplasia 18 with polydactyly (IFT143)
  • Allelic: Short-rib thoracic dysplasia 9 +/- polydactyly (IFT140)
  • Allelic: Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
  • Allelic: Skin/hair/eye pigmentation 3, blue/green eyes (TYR)
  • Allelic: Skin/hair/eye pigmentation 3, light/dark/freckling skin (TYR)
  • Albinism, oculocutaneous, type IA, IB (TYR)
  • Bestrophinopathy, AR (BEST1)
  • Bietti crystalline corneoretinal dystrophy (CYP4V2)
  • Choroidal dystrophy, central areolar 2 (PRPH2)
  • Choroideremia (CHM)
  • Cone-rod dystrophy 10 (SEMA4A)
  • Cone-rod dystrophy 11 (RAX2)
  • Cone-rod dystrophy 12 (PROM1)
  • Cone-rod dystrophy 15 (CDHR1)
  • Cone-rod dystrophy 16 (CFAP418)
  • Cone-rod dystrophy 3 (ABCA4)
  • Cone-rod dystrophy, XL, 1 (RPGR)
  • Enhanced S-cone syndrome (NR2E3)
  • Exudative vitreoretinopathy 6 (ZNF408)
  • Fundus flavimaculatus (ABCA4)
  • Gyrate atrophy of choroid + retina +/- ornithinemia (OAT)
  • Leber congenital amaurosis 13 (RDH12)
  • Macular degeneration, XL atrophic 1 (RPGR)
  • Macular degeneration, age-related, 2 (ABCA4)
  • Macular degeneration, age-related, 6 (RAX2)
  • Macular dystrophy, patterned, 1 (PRPH2)
  • Macular dystrophy, retinal, 2 (PROM1)
  • Macular dystrophy, vitelliform, 2 (BEST1)
  • Macular dystrophy, vitelliform, 3 (PRPH2)
  • Macular dystrophy, vitelliform, 4 (IMPG1)
  • Macular dystrophy, vitelliform, 5 (IMPG2)
  • Occult macular dystrophy (RP1L1)
  • Ocular albinism, type I, Nettleship-Falls type (GPT143)
  • Pigmented paravenous chorioretinal atrophy (CRB1)
  • Retinal degeneration, AR, clumped pigment type (NRL)
  • Retinal dystrophy, early-onset severe (ABCA4)
  • Retinitis pigmentosa +/- situs inversus (ARL2BP)
  • Retinitis pigmentosa 1 (RP1)
  • Retinitis pigmentosa 10 (IMPDH1)
  • Retinitis pigmentosa 11 (PRPF31)
  • Retinitis pigmentosa 12 (CRB1)
  • Retinitis pigmentosa 13 (PRPF8)
  • Retinitis pigmentosa 14 (TULP1)
  • Retinitis pigmentosa 18 (PRPF3)
  • Retinitis pigmentosa 19 (ABCA4)
  • Retinitis pigmentosa 2 (RP2)
  • Retinitis pigmentosa 20 (RPE65)
  • Retinitis pigmentosa 23 (OFD1)
  • Retinitis pigmentosa 25 (EYS)
  • Retinitis pigmentosa 26 (CERKL)
  • Retinitis pigmentosa 27 (NRL)
  • Retinitis pigmentosa 28 (FAM161A)
  • Retinitis pigmentosa 3 (RPGR)
  • Retinitis pigmentosa 30 (FSCN2)
  • Retinitis pigmentosa 31 (TOPORS)
  • Retinitis pigmentosa 32 (CLCC1)
  • Retinitis pigmentosa 33 (SNRNP200)
  • Retinitis pigmentosa 35 (SEMA4A)
  • Retinitis pigmentosa 36 (PRCD)
  • Retinitis pigmentosa 37 (NR2E3)
  • Retinitis pigmentosa 38 (MERTK)
  • Retinitis pigmentosa 39 (USH2A)
  • Retinitis pigmentosa 4, AD/AR (RHO)
  • Retinitis pigmentosa 40 (PDE6B)
  • Retinitis pigmentosa 41 (PROM1)
  • Retinitis pigmentosa 42 (KLHL7)
  • Retinitis pigmentosa 43 (PDE6A)
  • Retinitis pigmentosa 44 (RGR)
  • Retinitis pigmentosa 45 (CNGB1)
  • Retinitis pigmentosa 46 (IDH3B)
  • Retinitis pigmentosa 47, AR (SAG)
  • Retinitis pigmentosa 48 (GUCA1B)
  • Retinitis pigmentosa 49 (CNGA1)
  • Retinitis pigmentosa 50 (BEST1)
  • Retinitis pigmentosa 51 (TTC8)
  • Retinitis pigmentosa 54 (PCARE)
  • Retinitis pigmentosa 55 (ARL6)
  • Retinitis pigmentosa 56 (IMPG2)
  • Retinitis pigmentosa 57 (PDE6G)
  • Retinitis pigmentosa 58 (ZNF513)
  • Retinitis pigmentosa 59 (DHDDS)
  • Retinitis pigmentosa 60 (PRPF6)
  • Retinitis pigmentosa 61 (CLRN1)
  • Retinitis pigmentosa 62 (MAK)
  • Retinitis pigmentosa 64 (CFAP418)
  • Retinitis pigmentosa 65 (CDHR1)
  • Retinitis pigmentosa 66 (RBP3)
  • Retinitis pigmentosa 67 (NEK2)
  • Retinitis pigmentosa 68 (SLC7A14)
  • Retinitis pigmentosa 69 (KIZ)
  • Retinitis pigmentosa 7 + digenic form (PRPH2)
  • Retinitis pigmentosa 7, digenic form (ROM1)
  • Retinitis pigmentosa 70 (PRPF4)
  • Retinitis pigmentosa 71 (IFT172)
  • Retinitis pigmentosa 72 (ZNF408)
  • Retinitis pigmentosa 73 (HGSNAT)
  • Retinitis pigmentosa 74 (BBS2)
  • Retinitis pigmentosa 75 (AGBL5)
  • Retinitis pigmentosa 76 (POMGNT1)
  • Retinitis pigmentosa 77 (REEP6)
  • Retinitis pigmentosa 78 (ARHGEF18)
  • Retinitis pigmentosa 79 (HK1)
  • Retinitis pigmentosa 80 (IFT140)
  • Retinitis pigmentosa 81 (IFT143)
  • Retinitis pigmentosa 83 (ARL3)
  • Retinitis pigmentosa 84 (DHX38)
  • Retinitis pigmentosa 85 (AHR)
  • Retinitis pigmentosa 86 (KIAA1549)
  • Retinitis pigmentosa 87 with choroidal involvement (RPE65)
  • Retinitis pigmentosa 88 (RP1L1)
  • Retinitis pigmentosa 89 (KIF3B)
  • Retinitis pigmentosa 9 (RP9)
  • Retinitis pigmentosa 90 (IDH3A)
  • Retinitis pigmentosa 91 (IMPG1)
  • Retinitis pigmentosa 92 (HKDC1)
  • Retinitis pigmentosa 93 (CC2D2A)
  • Retinitis pigmentosa 94, variable age at onset, AR (SPATA7)
  • Retinitis pigmentosa 95 (RAX2)
  • Retinitis pigmentosa 96, AD (SAG)
  • Retinitis pigmentosa, XL, sinorespiratory infections +/- deafness 1 (RPGR)
  • Retinitis pigmentosa, concentric (BEST1)
  • Retinitis punctata albescens (PRPH2)
  • Retinitis punctata albescens (RHO)
  • Stargardt disease 1 (ABCA4)
  • Stargardt disease 4 (PROM1)
  • Usher syndrome, type 1B (MYO7A)
  • Usher syndrome, type 1C (USH1C)
  • Usher syndrome, type 1D (CDH23)
  • Usher syndrome, type 1D/F digenic (CDH23)
  • Usher syndrome, type 1D/F digenic (PCDH15)
  • Usher syndrome, type 1F (PCDH15)
  • Usher syndrome, type 1G (USH1G)
  • Usher syndrome, type 1J (CIB2)
  • Usher syndrome, type 2A (USH2A)
  • Usher syndrome, type 3A (CLRN1)
  • Vitreoretinochoroidopathy (BEST1)
  • Waardenburg syndrome/albinism, digenic (TYR)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined