Hydrocephalus
Gene: KIF7Comment 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
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
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
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
Publications for gene: KIF7 were set to 21552264
Phenotypes for gene: KIF7 were changed from ?Hydrolethalus syndrome 2 614120 to ?Hydrolethalus syndrome 2, OMIM:614120
Source NHS GMS was added to KIF7.
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
KIF7 was added to Hydrocephaluspanel. Sources: Literature
KIF7 was created by helen.brittain