IllnessCorneal disorders, except for dystrophies; differentialdiagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Corneal disorders - except for dystrophies - containng 11 core candidate genes and altogether 19 curated genes according to the clinical signs

HP5536

Number of genes

19 Accredited laboratory test

Examined sequence length

31,6 kb (Core-/Core-canditate-Genes)
48,0 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

[[Sanger]]

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
ADAMTS18	3666	607512	NM_199355.4	AR
B3GLCT	1497	610308	NM_194318.4	AR
CHRDL1	1377	300350	NM_001143981.2	XLR
GJA1	1149	121014	NM_000165.5	AD, AR
HMX1	1047	142992	NM_018942.3	AR
KERA	1059	603288	NM_007035.4	AR
LTBP2	5466	602091	NM_000428.3	AR
PITX2	816	601542	NM_153427.2	AD
RAB18	621	602207	NM_021252.5	AR
RAB3GAP1	2946	602536	NM_012233.3	AR
ZNF469	11862	612078	NM_001367624.2	AR
ALDH18A1	2388	138250	NM_002860.4	AD, AR
GSN	2349	137350	NM_000177.5	AD
MAF	1212	177075	NM_005360.5	AD
PIK3R1	2175	171833	NM_181523.3	AD
PRDM5	1893	614161	NM_018699.4	AR
RAB3GAP2	4182	609275	NM_012414.4	AR
SLC16A12	1551	611910	NM_213606.4	AD
VSX1	711	605020	NM_001256271.2	AD

Informations about the disease

Clinical Comment

Group of heterogenous genetic diseases

Synonyms

Alias: Rare genetic corneal disorders, except for dystrophies
Allelic: Ectodermal dysplasia 15, hypohidrotic/hair type (CST6)
Allelic: Glaucoma 3, primary congenital, D (LTBP2)
Allelic: Immunodeficiency 36 (PIK3R1)
Allelic: Martsolf syndrome (RAB3GAP2)
Allelic: Weill-Marchesani syndrome 3, AR (LTBP2)
Amyloidosis, Finnish type (GSN)
Anterior segment dysgenesis 4 (PITX2)
Anterior segment dysgenesis 5, multiple subtypes (PAX6)
Axenfeld-Rieger syndrome, type 1 (PITX2)
Brittle cornea syndrome 1 (ZNF469)
Brittle cornea syndrome 2 (PRDM5)
Cataract 47, juvenile, with microcornea (SLC16A12)
Cornea plana 2, AR (KERA)
Keratitis (PAX6)
Macular corneal dystrophy (CST6)
Megalocornea 1, X-linked (CHRDL1)
Microcornea, myopic chorioretinal atrophy, telecanthus (ADAMTS18)
Microspherophakia and/or megalocornea, with ectopia lentis + with/-out secondary glaucoma (LTBP2)
Oculoauricular syndrome (HMX1)
Peters-plus syndrome (B3GLCT)
Ring dermoid of cornea (PITX2)
SHORT syndrome (PIK3R1)
Warburg micro syndrome 1 (RAB3GAP1)
Warburg micro syndrome 2 (RAB3GAP2)
Warburg micro syndrome 3 (RAB18)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined