This Panel is marked as Internal
Non-Fanconi anaemia
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
Helen Savage (Congenica Ltd)
Phenotype not sufficient to meet panel inclusion criteria.Created: 10 Feb 2016, 2:47 p.m.
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Limb Malformation
- OMIM
- 611254
- Clinvar variants
- Variants in KIF7
- Penetrance
- Complete
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
- VACTERL-like phenotypes
- Renal ciliopathies
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Limb disorders
- DDG2P
- Ocular coloboma
- Optic neuropathy
- Intellectual disability
- Clefting
- Retinal disorders
- Hydrocephalus
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Structural eye disease
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
History Filter Activity
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)KIF7 was added to Non-Fanconi anaemiapanel. Source: Emory Genetics Laboratory
15 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)KIF7 was added to Non-Fanconi anaemiapanel. Sources: Emory Genetics Laboratory