Skeletal Dysplasia_Fetal
Gene: KIF7

KIF7 (kinesin family member 7)
EnsemblGeneIds (GRCh38): ENSG00000166813
EnsemblGeneIds (GRCh37): ENSG00000166813
OMIM: 611254, Gene2Phenotype
KIF7 is in 19 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Polydactyly is a feature of acrocallosal syndrome, but overall predominantly neurological presentation.
Created: 24 May 2020, 11:14 a.m. | Last Modified: 24 May 2020, 11:14 a.m.

Panel Version: 0.33

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Acrocallosal syndrome, MIM# 200990; Joubert syndrome 12, MIM# 200990

Created: 24 May 2020, 11:14 a.m.
Last Modified: 24 May 2020, 11:14 a.m.
Panel version: Imported from Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy panel version 0.33

Details

Mode of Inheritance

Unknown

Sources

Expert Review Amber
Victorian Clinical Genetics Services
Victorian Clinical Genetics Services
Expert Review Green
Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

OMIM

611254

Clinvar variants

Variants in KIF7

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KIF7 was added gene: KIF7 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KIF7 was set to Unknown

Skeletal Dysplasia_Fetal Gene: KIF7