Renal Ciliopathies and Nephronophthisis
Gene: SDCCAG8EnsemblGeneIds (GRCh38): ENSG00000054282
EnsemblGeneIds (GRCh37): ENSG00000054282
OMIM: 613524, Gene2Phenotype
SDCCAG8 is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association with BBS. Polydactyly is typically ABSENT. Also reported with LCA and apparently isolated nephronophtisis.Created: 5 Jul 2021, 11:17 p.m. | Last Modified: 5 Jul 2021, 11:17 p.m.
Panel Version: 0.184
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444; Senior-Loken syndrome 7, MIM# 613615; MONDO:0013326; Nephronophthisis
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- KidGen_CilioNephronop v38.1.0
- Phenotypes
-
- Bardet-Biedl syndrome 16, MIM# 615993
- MONDO:0014444
- Senior-Loken syndrome 7, MIM# 613615
- MONDO:0013326
- Nephronophthisis
- OMIM
- 613524
- Clinvar variants
- Variants in SDCCAG8
- Penetrance
- None
- Publications
- Panels with this gene
-
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Skeletal dysplasia
- Fetal anomalies
- Prepair 1000+
- Mendeliome
- Renal Ciliopathies and Nephronophthisis
- Syndromic Retinopathy
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Severe early-onset obesity
- Bardet Biedl syndrome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sdccag8 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SDCCAG8 were changed from to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444; Senior-Loken syndrome 7, MIM# 613615; MONDO:0013326; Nephronophthisis
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SDCCAG8 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SDCCAG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SDCCAG8 was added gene: SDCCAG8 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: SDCCAG8 was set to Unknown