Cataract
Gene: ISPDEnsemblGeneIds (GRCh38): ENSG00000214960
EnsemblGeneIds (GRCh37): ENSG00000214960
OMIM: 614631, Gene2Phenotype
ISPD is in 17 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 MIM#614643
Seb Lunke (Victorian Clinical Genetics Services)
>10 independent patients with congential cataract as part of muscular dystrophy presentation, plus functional studies in zebra fish.
Sources: LiteratureCreated: 8 Jul 2020, 7 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 MIM#614643
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 MIM#614643
- OMIM
- 614631
- Clinvar variants
- Variants in ISPD
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Hydrocephalus_Ventriculomegaly
- Muscular dystrophy and myopathy_Paediatric
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Congenital Disorders of Glycosylation
- Fetal anomalies
- Additional findings_Paediatric
- Lissencephaly and Band Heterotopia
- Arthrogryposis
- Mendeliome
- Cataract
- Callosome
- Cerebellar and Pontocerebellar Hypoplasia
History Filter Activity
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: ispd has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: ispd has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Seb Lunke (Victorian Clinical Genetics Services)gene: ISPD was added gene: ISPD was added to Cataract. Sources: Literature Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISPD were set to 22522421; 22522420 Phenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 MIM#614643