Thoracic dystrophies
Gene: KIF7EnsemblGeneIds (GRCh38): ENSG00000166813
EnsemblGeneIds (GRCh37): ENSG00000166813
OMIM: 611254, Gene2Phenotype
KIF7 is in 23 panels
3 reviews
Melita Irving (Guy's and St Thomas' NHS Trust)
Phenotypes
JBTS/HLS
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Sufficient cases. Expert review greenCreated: 25 May 2017, 12:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ACROCALLOSAL SYNDROME, ACLS #200990
Publications
Hannah Mitchison (UCL and GOSH)
Phenotypes
JBTS/HLS
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- ACROCALLOSAL SYNDROME, ACLS / JOUBERT SYNDROME 12 #200990
- OMIM
- 611254
- Clinvar variants
- Variants in KIF7
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- VACTERL-like phenotypes
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Skeletal dysplasia
- Clefting
- Ocular coloboma
- Optic neuropathy
- Structural eye disease
- Hydrocephalus
- Intellectual disability
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- DDG2P
- Retinal disorders
- Limb disorders
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Fetal anomalies
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for KIF7 were set to ACROCALLOSAL SYNDROME, ACLS / JOUBERT SYNDROME 12 #200990
Set publications
Helen Brittain (Genomics England Curator)Publications for KIF7 were set to 21552264
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for KIF7 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)KIF7 was added to Thoracic dystrophiespanel. Sources: Emory Genetics Laboratory