Structural eye disease
Gene: ISPD
Roscioli: six Walker-Warburg cases with microphthalmia and one with Peter's anomaly, full segregation of homozygous or compound heterozygous variants. Morpholino treated zebrafish have significantly smaller eyes.Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91
DB Roscioli: six families with microphthalmia and one with Peter's anomalyCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes
Muscular Dystrophy-Dystroglycanopathy, Type A, 7, MDDGA7
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Roscioli: six families with microphthalmia and one with Peter's anomalyCreated: 17 Apr 2019, 3:31 p.m.
Added new-gene-name tag, new approved HGNC gene symbol for ISPD is CRPPACreated: 17 Apr 2019, 10:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643
Publications
Source London North GLH was added to ISPD.
Tag new-gene-name tag was added to gene: ISPD.
gene: ISPD was added gene: ISPD was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISPD were set to 22522421 Phenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643