Structural eye disease
Gene: SDCCAG8EnsemblGeneIds (GRCh38): ENSG00000054282
EnsemblGeneIds (GRCh37): ENSG00000054282
OMIM: 613524, Gene2Phenotype
SDCCAG8 is in 20 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Senior-Loken syndrome 7; Bardet-Biedl syndrome 16; 613615; 615993
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Bardet-Biedl syndrome 16, 615993
- Senior-Loken syndrome 7, 613615
- Eye Disorders
- OMIM
- 613524
- Clinvar variants
- Variants in SDCCAG8
- Penetrance
- None
- Panels with this gene
-
- Ophthalmological ciliopathies
- Renal ciliopathies
- Cystic kidney disease
- DDG2P
- Skeletal ciliopathies
- Skeletal dysplasia
- Intellectual disability
- Unexplained kidney failure in young people
- Dystonia, chorea or related movement disorder, childhood onset
- Ductal plate malformation
- Severe early-onset obesity
- Structural eye disease
- Rare multisystem ciliopathy disorders
- Retinal disorders
- Bardet Biedl syndrome
- Limb disorders
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Fetal anomalies
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to SDCCAG8. Mode of inheritance for gene SDCCAG8 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bardet-Biedl syndrome 16, 615993; Senior-Loken syndrome 7, 613615 for gene: SDCCAG8
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: SDCCAG8 was added gene: SDCCAG8 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: SDCCAG8 was set to Phenotypes for gene: SDCCAG8 were set to Eye Disorders