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Cataract

Gene: ISPD

Green List (high evidence)

ISPD (isoprenoid synthase domain containing)
EnsemblGeneIds (GRCh38): ENSG00000214960
EnsemblGeneIds (GRCh37): ENSG00000214960
OMIM: 614631, Gene2Phenotype
ISPD is in 17 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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: Literature
Created: 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

History Filter Activity

8 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: ispd has been classified as Green List (High Evidence).

8 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: ispd has been classified as Green List (High Evidence).

8 Jul 2020, Gel status: 1

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