Optic neuropathy
Gene: KIF7
KIF7 (kinesin family member 7)
EnsemblGeneIds (GRCh38): ENSG00000166813
EnsemblGeneIds (GRCh37): ENSG00000166813
OMIM: 611254, Gene2Phenotype
KIF7 is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000166813
EnsemblGeneIds (GRCh37): ENSG00000166813
OMIM: 611254, Gene2Phenotype
KIF7 is in 23 panels
1 review
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ACROCALLOSAL SYNDROME, 200990
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- London North GLH
- Phenotypes
-
- ACROCALLOSAL SYNDROME, 200990
- OMIM
- 611254
- Clinvar variants
- Variants in KIF7
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Unexplained kidney failure in young people
- Ductal plate malformation
- DDG2P
- Rare multisystem ciliopathy disorders
- Skeletal dysplasia
- Neurological ciliopathies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Limb disorders
- Structural eye disease
- Fetal anomalies
- VACTERL-like phenotypes
- Retinal disorders
- Clefting
- Ophthalmological ciliopathies
- Cystic kidney disease
- Renal ciliopathies
- Optic neuropathy
- Ocular coloboma
- Intellectual disability
- Hydrocephalus
History Filter Activity
19 Mar 2019, Gel status: 1
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: KIF7 were changed from to ACROCALLOSAL SYNDROME, 200990
19 Mar 2019, Gel status: 1
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: KIF7 was changed from to BIALLELIC, autosomal or pseudoautosomal
19 Mar 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: KIF7 was added gene: KIF7 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: KIF7 was set to