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Intellectual disability syndromic and non-syndromic

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)

Further 11 families reported. Major structural brain abnormalities present in at least 3 (hydrocephalus), variable ID in several.
Created: 24 Sep 2021, 5:45 a.m. | Last Modified: 24 Sep 2021, 5:45 a.m.
Panel Version: 0.4131
Single family reported.
Created: 8 Feb 2020, 9:59 a.m. | Last Modified: 8 Feb 2020, 9:59 a.m.
Panel Version: 0.2064

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

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

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genetic Health Queensland
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

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KIF4A were set to 24812067; 34346154

24 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KIF4A were set to 24812067

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).

8 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kif4a has been classified as Red List (Low Evidence).

8 Feb 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 Feb 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KIF4A were set to

8 Feb 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KIF4A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

8 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kif4a has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KIF4A was added gene: KIF4A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KIF4A was set to Unknown