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  3. KIF21A
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Congenital fibrosis of the extraocular muscles

Gene: KIF21A

Green List (high evidence)
KIF21A (kinesin family member 21A)
EnsemblGeneIds (GRCh38): ENSG00000139116
EnsemblGeneIds (GRCh37): ENSG00000139116
OMIM: 608283, Gene2Phenotype
KIF21A is in 5 panels

2 reviews

Morag Shanks (Oxford Medical Genetics laboratory)

Green List (high evidence)

R954W identified in a number families with CFEOM1. Most common variant. R954Q also identified in a chinese family. - Mutation hotspot
Created: 21 Mar 2019, 10:12 a.m.

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: 21 Mar 2019, 10:12 a.m.

Panel version: 0.8

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Heterozygous missense variants identified in multiple unrelated families of different ethnicities. Arginine 954 appears to represent a mutational hotspot, although other missense variants have also been reported.
Sources: Literature
Created: 16 Feb 2019, 1:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital fibrosis of the extraocular muscles

Publications

Created: 16 Feb 2019, 1:43 a.m.

Panel version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Fibrosis of extraocular muscles, congenital, 1, OMIM:135700
  • Fibrosis of extraocular muscles, congenital, 3B, OMIM:135700
OMIM
608283
Clinvar variants
Variants in KIF21A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

21 Mar 2019, Gel status: 3

Added New Source, Added New Source, Set Phenotypes, Set publications, Status Update

Ivone Leong (Genomics England Curator)

Source Wessex and West Midlands GLH was added to KIF21A. Source Expert Review Green was added to KIF21A. Added phenotypes Fibrosis of extraocular muscles, congenital, 1 135700; Fibrosis of extraocular muscles, congenital, 3B 135700 for gene: KIF21A Publications for gene KIF21A were changed from 15621876 to 15621876; 15621877; 15223798; 18332320 Rating Changed from Red List (low evidence) to Green List (high evidence)

16 Feb 2019, Gel status: 1

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

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

gene: KIF21A was added gene: KIF21A was added to Congenital fibrosis of the extraocular muscles. Sources: Literature Mode of inheritance for gene: KIF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF21A were set to 15621876 Phenotypes for gene: KIF21A were set to Congenital fibrosis of the extraocular muscles Review for gene: KIF21A was set to GREEN