Structural eye disease
Gene: ISPDEnsemblGeneIds (GRCh38): ENSG00000214960
EnsemblGeneIds (GRCh37): ENSG00000214960
OMIM: 614631, Gene2Phenotype
ISPD is in 17 panels
3 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
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
Mariya Moosajee (Moorfields Eye Hospital)
Phenotypes
Muscular Dystrophy-Dystroglycanopathy, Type A, 7, MDDGA7
Ivone Leong (Genomics England Curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- London North GLH
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643
- Tags
- OMIM
- 614631
- Clinvar variants
- Variants in ISPD
- Penetrance
- None
- Publications
- Panels with this gene
-
- Congenital disorders of glycosylation
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Childhood onset dystonia, chorea or related movement disorder
- Cerebellar hypoplasia
- Undiagnosed metabolic disorders
- Intellectual disability
- Ataxia and cerebellar anomalies - narrow panel
- Arthrogryposis
- Malformations of cortical development
- Structural eye disease
- Hydrocephalus
- Fetal anomalies
- Likely inborn error of metabolism
- Bilateral congenital or childhood onset cataracts
- DDG2P
- Early onset or syndromic epilepsy
- Congenital muscular dystrophy
History Filter Activity
Added New Source
Ivone Leong (Genomics England Curator)Source London North GLH was added to ISPD.
Added Tag
Ivone Leong (Genomics England Curator)Tag new-gene-name tag was added to gene: ISPD.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)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