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Microcephaly

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 18 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

XLD. Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) is an X-linked disorder affecting females and characterized by severe intellectual disability, microcephaly, and variable degrees of pontocerebellar hypoplasia. Affected individuals have very poor psychomotor development, often without independent ambulation or speech, and axial hypotonia with or without hypertonia. Some may have sensorineural hearing loss or eye anomalies. Dysmorphic features include overall poor growth, severe microcephaly (-3.5 to -10 SD), broad nasal bridge and tip, large ears, long philtrum, micrognathia, and hypertelorism. Over 20 unrelated individuals reported.
Created: 4 Sep 2020, 11:04 a.m. | Last Modified: 4 Sep 2020, 11:04 a.m.
Panel Version: 0.476

Mode of inheritance
Other

Phenotypes
Mental retardation and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749

Publications

History Filter Activity

4 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CASK were changed from to Mental retardation and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749

4 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CASK were set to

4 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CASK was changed from Unknown to Other

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CASK was added gene: CASK was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CASK was set to Unknown