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  2. Hydrocephalus_Ventriculomegaly
  3. KIF4A
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Hydrocephalus_Ventriculomegaly

Gene: KIF4A

Green List (high evidence)
KIF4A (kinesin family member 4A)
EnsemblGeneIds (GRCh38): ENSG00000090889
EnsemblGeneIds (GRCh37): ENSG00000090889
OMIM: 300521, Gene2Phenotype
KIF4A is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

12 families reported. Severe hydrocephalus present in at least 3.
Sources: Expert Review
Created: 24 Sep 2021, 5:53 a.m.

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

Phenotypes
Mental retardation, X-linked 100, MIM# 300923

Publications

Created: 24 Sep 2021, 5:53 a.m.

Panel version: 0.95

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Intellectual developmental disorder, X-linked 100 MIM#300923
OMIM
300521
Clinvar variants
Variants in KIF4A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Jan 2024, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: KIF4A were changed from Mental retardation, X-linked 100, MIM# 300923 to Intellectual developmental disorder, X-linked 100 MIM#300923

24 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kif4a has been classified as Green List (High Evidence).

24 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kif4a has been classified as Green List (High Evidence).

24 Sep 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KIF4A was added gene: KIF4A was added to Hydrocephalus_Ventriculomegaly. Sources: Expert Review Mode of inheritance for gene: KIF4A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: KIF4A were set to 24812067; 34346154; 30679815 Phenotypes for gene: KIF4A were set to Mental retardation, X-linked 100, MIM# 300923 Review for gene: KIF4A was set to GREEN