Albinism or congenital nystagmus

Gene: CASK

Green List (high evidence)

CASK (calcium/calmodulin dependent serine protein kinase)
EnsemblGeneIds (GRCh38): ENSG00000147044
EnsemblGeneIds (GRCh37): ENSG00000147044
OMIM: 300172, Gene2Phenotype
CASK is in 17 panels

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Jonathan Callaway (Wessex Regional Genetics Laboratory) February 2019. Suggested intial gene rating: Green; Comments provided: Comments from HGMDpro: STRONG EVIDENCE: 119 variants listed, including numerous LOF variants. The majority have mental retardation, intellectual disability or epilepsy as the reported phenotype. 6 variants have nystagmus within the reported phenotype and in 5 of these cases the phenotype also included mental retardation. Our local clinical expert in ophthalmology suggests including this gene since it can appear to present as isolated nystagmus.
Created: 13 Feb 2019, 11:41 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
FG syndrome 4 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD; Mental retardation, with or without nystagmus 300422

Details

History Filter Activity

20 Mar 2019, Gel status: 3

Set Phenotypes, Status Update

Ivone Leong (Genomics England Curator)

Added phenotypes Mental retardation, with or without nystagmus 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD; FG syndrome 4 300422 for gene: CASK Rating Changed from Green List (high evidence) to Green List (high evidence)

13 Feb 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

13 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: CASK was added gene: CASK was added to Albinism or congenital nystagmus. Sources: Expert list Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CASK were set to Mental retardation, with or without nystagmus 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD; FG syndrome 4 300422