Hydrocephalus
Gene: KIF7EnsemblGeneIds (GRCh38): ENSG00000166813
EnsemblGeneIds (GRCh37): ENSG00000166813
OMIM: 611254, Gene2Phenotype
KIF7 is in 23 panels
4 reviews
Ivone Leong (Genomics England Curator)
Comment on publications: New publication added PMID:26174511Created: 21 Jun 2021, 8:53 a.m. | Last Modified: 21 Jun 2021, 8:53 a.m.
Panel Version: 2.110
Zornitza Stark (Australian Genomics)
Variants in KIF7 cause ciliopathies, which range in severity of structural brain malformations with hydrolethalus at the extreme end of the spectrum (one family reported). Note another report of bi-allelic variants in an individuals with a milder phenotype, more consistent with acrocallosal syndrome, who also had hydrocephalus.Created: 8 Aug 2020, 12:46 a.m. | Last Modified: 8 Aug 2020, 12:46 a.m.
Panel Version: 2.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hydrolethalus syndrome 2, MIM# 614120; Ciliopathy
Publications
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene AmberCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Helen Brittain (Genomics England Curator)
Fetal relevance. Only one family reported to date.Created: 25 May 2017, 2:49 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Hydrolethalus syndrome 2 614120
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Amber
- Literature
- Phenotypes
-
- ?Hydrolethalus syndrome 2, OMIM:614120
- Tags
- OMIM
- 611254
- Clinvar variants
- Variants in KIF7
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- VACTERL-like phenotypes
- Renal ciliopathies
- Ophthalmological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Clefting
- Ocular coloboma
- Limb disorders
- Structural eye disease
- Skeletal dysplasia
- Optic neuropathy
- Neurological ciliopathies
- Hydrocephalus
- Retinal disorders
- Unexplained kidney failure in young people
- Intellectual disability
- Ductal plate malformation
- Fetal anomalies
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
History Filter Activity
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: KIF7 were set to 21552264
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: KIF7 were changed from ?Hydrolethalus syndrome 2 614120 to ?Hydrolethalus syndrome 2, OMIM:614120
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to KIF7.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Helen Brittain (Genomics England Curator)KIF7 was added to Hydrocephaluspanel. Sources: Literature
Created
Helen Brittain (Genomics England Curator)KIF7 was created by helen.brittain