IllnessPallister-Hall syndrome, differential diagnoses

Summary

Short information

Comprehensive differential diagnostic panel for Pallister-Hall syndrome containing 1 core gene, 4 additional core candidate genes and altogether 23 curated genes according to the clinical signs

PP2271

Number of genes

5 Accredited laboratory test

Examined sequence length

19,4 kb (Core-/Core-canditate-Genes)
- (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
CPLANE1	9864	614571	NM_023073.4	AR
DHCR7	1428	602858	NM_001360.3	AR
GLI3	4743	165240	NM_000168.6	AD
MKKS	1713	604896	NM_018848.3	AR
TBX5	1557	601620	NM_000192.3	AD

Informations about the disease

Clinical Comment

Pleiotropic AD malformative disorder with hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, rarely renal abnormalities, genitourinary malformations

DD eventually also Bardet-Biedl syndrome genes: BBS1, BBS2, ARL6, BBS4, BBS5, MKKS, BBS7, TTC8, BBS9, BBS10, TRIM32, BBS12, MKS1, CEP290, WDPCP, SDCCAG8, LZTFL1, BBIP1, IFT27

Synonyms

DD: Bardet-Biedl, Holt-Oram, McKusick-Kaufman, Smith-Lemli-Opitz syndromes
Allelic: Cone-rod dystrophy 16 (CFAP418)
Allelic: Greig cephalopolysyndactyly syndrome (GLI3)
Allelic: Hypothalamic hamartoma, somatic (GLI3)
Allelic: Polydactyly, postaxial, types A1 + B (GLI3)
Allelic: Polydactyly, preaxial, type IV (GLI3)
Allelic: Retinitis pigmentosa 55 (ARL6)
Allelic: Retinitis pigmentosa 64 (CFAP418)
Allelic: Retinitis pigmentosa 71 (IFT172)
Bardet-Biedl syndrome 1, modifier of (ARL6)
Bardet-Biedl syndrome 11 (TRIM32)
Bardet-Biedl syndrome 13 (MKS1)
Bardet-Biedl syndrome 14 (CEP290)
Bardet-Biedl syndrome 14, modifier of (TMEM67)
Bardet-Biedl syndrome 15 (WDPCP)
Bardet-Biedl syndrome 16 (SDCCAG8)
Bardet-Biedl syndrome 17 (LZTFL1)
Bardet-Biedl syndrome 18 (BBIP1)
Bardet-Biedl syndrome 19 (IFT27)
Bardet-Biedl syndrome 20 (IFT74)
Bardet-Biedl syndrome 21 (CFAP418)
Bardet-Biedl syndrome 3 (ARL6)
Bardet-Biedl syndrome 6 (MKKS)
Bardet-Biedl syndrome 8 (TTC8)
Congenital heart defects, hamartomas of tongue + polysyndactyly (WDPCP)
Curry-Jones syndrome, somatic mosaic (SMO)
Holt-Oram syndrome (TBX5)
Joubert syndrome 17 (C5orf42 syn. CPLANE1)
Joubert syndrome 28 (MKS1)
Joubert syndrome 5 (CEP290)
Leber congenital amaurosis 10 (CEP290)
McKusick-Kaufman syndrome (MKKS)
Meckel syndrome 1 (MKS1)
Meckel syndrome 4 (CEP290)
Muscular dystrophy, limb-girdle, AR 8 (TRIM32)
Nephronophthisis 15 (CEP164)
Orofaciodigital syndrome VI (C5orf42 syn. CPLANE1)
Pallister-Hall syndrome (GLI3)
Pallister-Hall-like syndrome (SMO)
Senior-Loken 6 (CEP290)
Senior-Loken syndrome 7 (SDCCAG8)
Short-rib thoracic dysplasia 10 with/-out polydactyly (IFT172)
Smith-Lemli-Opitz syndrome (DHCR7)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined