Structural eye disease
Gene: IQCB1EnsemblGeneIds (GRCh38): ENSG00000173226
EnsemblGeneIds (GRCh37): ENSG00000173226
OMIM: 609237, Gene2Phenotype
IQCB1 is in 14 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 5: an autosomal recessive disorder with the main features of nephronophthisis (NPHP; see 256100) and Leber congenital amaurosis (LCA; see 204000).; 609254
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 5: an autosomal recessive disorder with the main features of nephronophthisis (NPHP, see 256100) and Leber congenital amaurosis (LCA, see 204000) 609254
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Senior-Loken syndrome 5: an autosomal recessive disorder with the main features of nephronophthisis (NPHP, see 256100) and Leber congenital amaurosis (LCA, see 204000) 609254
- Eye Disorders
- OMIM
- 609237
- Clinvar variants
- Variants in IQCB1
- Penetrance
- None
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Retinal disorders
- Renal ciliopathies
- Ophthalmological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Unexplained kidney failure in young people
- Ductal plate malformation
- Cystic kidney disease
- Fetal anomalies
- Structural eye disease
- Skeletal dysplasia
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to IQCB1. Mode of inheritance for gene IQCB1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Senior-Loken syndrome 5: an autosomal recessive disorder with the main features of nephronophthisis (NPHP, see 256100) and Leber congenital amaurosis (LCA, see 204000) 609254 for gene: IQCB1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: IQCB1 was added gene: IQCB1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: IQCB1 was set to Phenotypes for gene: IQCB1 were set to Eye Disorders