Albinism or congenital nystagmus
Gene: CASK
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
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)
Gene: cask has been classified as Green List (High Evidence).
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