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Mendeliome

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

2 reviews

Lucy Spencer (Victorian Clinical Genetics Services)

I don't know

PMID: 31616463 - 8 affected males across 2 families with taurodontism, microdontia and dens-invaginatus who had normal neurodevelopment, both families had missense variants which were inherited through unaffected females.
Created: 5 Oct 2023, 1:19 a.m. | Last Modified: 5 Oct 2023, 1:19 a.m.
Panel Version: 1.1245

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

Phenotypes
Taurodontism, microdontia, and dens invaginatus (MIM#313490)

Publications

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, 5:46 a.m. | Last Modified: 24 Sep 2021, 5:46 a.m.
Panel Version: 0.9227
Single family reported.
Created: 8 Feb 2020, 10:01 a.m. | Last Modified: 8 Feb 2020, 10:01 a.m.
Panel Version: 0.1312

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
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder, X-linked 100 MIM#300923
  • Taurodontism, microdontia, and dens invaginatus MIM#313490
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; Taurodontism, microdontia, and dens invaginatus (MIM#313490) to Intellectual developmental disorder, X-linked 100 MIM#300923; Taurodontism, microdontia, and dens invaginatus MIM#313490

5 Oct 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KIF4A were changed from Mental retardation, X-linked 100, MIM# 300923 to Mental retardation, X-linked 100, MIM# 300923; Taurodontism, microdontia, and dens invaginatus (MIM#313490)

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).

17 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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KIF4A was set to Unknown