Structural eye disease
Gene: KIF7EnsemblGeneIds (GRCh38): ENSG00000166813
EnsemblGeneIds (GRCh37): ENSG00000166813
OMIM: 611254, Gene2Phenotype
KIF7 is in 23 panels
4 reviews
Eleanor Williams (Genomics England Curator)
Comment on list classification: Leaving rating as red. Although a second case with a variant in KIF7 is reported in Niceta et al (2020) the patient also has a homozygous variant in KIAA0556.Created: 9 Sep 2022, 11:30 p.m. | Last Modified: 9 Sep 2022, 11:30 p.m.
Panel Version: 1.142
Samantha Malka (Moorfields Eye Hospital)
Niceta et al (2020) - published a case including coloboma with a patient with biallelic KIF7 mutations (patient also had biallelic mutations in KIAA0556)Created: 2 Sep 2022, 11:09 a.m. | Last Modified: 2 Sep 2022, 11:09 a.m.
Panel Version: 1.132
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 12
Publications
- PMID: 32164589
Mode of pathogenicity
Other
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Dafinger: one family with coloboma - heterozygous in-frame deletion inherited from unaffected mother, patient also has two TMEM67 mutations that segregateCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Acrocallosal syndrom (JOUBERT SYNDROME 12); 200990
Publications
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Dafinger: one family with coloboma - heterozygous in-frame deletion inherited from unaffected mother, patient also has two TMEM67 mutations that segregateCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Acrocallosal syndrom (JOUBERT SYNDROME 12), 200990
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- NHS GMS
- Phenotypes
-
- Joubert syndrome
- Acrocallosal syndrom (JOUBERT SYNDROME 12), 200990
- Acrocallosal syndrome
- OMIM
- 611254
- Clinvar variants
- Variants in KIF7
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hydrocephalus
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Structural eye disease
- Skeletal dysplasia
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- VACTERL-like phenotypes
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
- Ocular coloboma
- Optic neuropathy
- Clefting
History Filter Activity
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: kif7 has been classified as Red List (Low Evidence).
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: KIF7 were set to 21633164
Added New Source, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to KIF7. Added phenotypes Acrocallosal syndrom (JOUBERT SYNDROME 12), 200990 for gene: KIF7
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: KIF7 was added gene: KIF7 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF7 were set to 21633164 Phenotypes for gene: KIF7 were set to Joubert syndrome; Acrocallosal syndrome