GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: KIF7

KIF7 (kinesin family member 7)
EnsemblGeneIds (GRCh38): ENSG00000166813
EnsemblGeneIds (GRCh37): ENSG00000166813
OMIM: 611254, Gene2Phenotype
KIF7 is in 23 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

polydactyly-syndactyly-triphalangism SD gp >3 cilipathy cases reported. Alsoa associated with Al-Gazali-Bakalinova syndrome 607131;Hydrolethalus syndrome 2 614120; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Acrocallosal syndrome 200990; Joubert syndrome 12 200990

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Joubert syndrome 12 200990
Acrocallosal syndrome 200990

OMIM

611254

Clinvar variants

Variants in KIF7

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: KIF7 was added gene: KIF7 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIF7 were set to Joubert syndrome 12 200990; Acrocallosal syndrome 200990

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: KIF7