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Congenital ophthalmoplegia
Gene: KIF21A

KIF21A (kinesin family member 21A)
EnsemblGeneIds (GRCh38): ENSG00000139116
EnsemblGeneIds (GRCh37): ENSG00000139116
OMIM: 608283, Gene2Phenotype
KIF21A is in 8 panels

1 review

Shannon LeBlanc (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 14595441 - KIF21A variants in 31 probands from unrelated families with CFEOM1 and 13 sporadic cases including four recurrent mutations.
Created: 28 Oct 2020, 12:26 p.m. | Last Modified: 28 Oct 2020, 12:26 p.m.

Panel Version: 0.0

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Fibrosis of extraocular muscles, congenital, 1, 135700; Fibrosis of extraocular muscles, congenital, 3B, 135700

Publications

Created: 28 Oct 2020, 12:26 p.m.
Last Modified: 28 Oct 2020, 12:26 p.m.
Panel version: 0.0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genomics England PanelApp

Phenotypes

Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700

OMIM

Clinvar variants

Variants in KIF21A

Penetrance

None

Publications

Panels with this gene

History Filter Activity

28 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kif21a has been classified as Green List (High Evidence).

28 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KIF21A were changed from Fibrosis of extraocular muscles, congenital, 1, MIM# 135700 to Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700

28 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KIF21A were changed from Fibrosis of extraocular muscles, congenital, 1 135700; Congenital fibrosis of the extraocular muscles; Fibrosis of extraocular muscles, congenital, 3B 135700 to Fibrosis of extraocular muscles, congenital, 1, MIM# 135700

28 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KIF21A were set to 15621876; 15223798; 15621877; 18332320

7 Oct 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KIF21A was added gene: KIF21A was added to Congenital fibrosis of the extraocular muscles. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: KIF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF21A were set to 15621876; 15223798; 15621877; 18332320 Phenotypes for gene: KIF21A were set to Fibrosis of extraocular muscles, congenital, 1 135700; Congenital fibrosis of the extraocular muscles; Fibrosis of extraocular muscles, congenital, 3B 135700