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  2. BRIDGE_SPEED_NEURO_20170705
  3. CASK
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BRIDGE_SPEED_NEURO_20170705

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 15 panels

2 reviews

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_gilissen_2014_known;in_omim_20150205_microcephaly . Main mutation mechanism : Loss of function; Uncertain; All missense/in frame
Created: 28 Jul 2017, 8:51 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Publications

Mode of pathogenicity

Created: 2 Aug 2017, 1:37 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 9:29 a.m.
Created: 31 Jul 2017, 9:29 a.m.

Panel version: 0.27

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Green
Phenotypes
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
  • FG syndrome 4, 300422
  • Mental retardation, with or without nystagmus, 300422
OMIM
300172
Clinvar variants
Variants in CASK
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CASK were set to Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749; FG syndrome 4, 300422; Mental retardation, with or without nystagmus, 300422

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

CASK was created by LouiseD

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

CASK was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green