Hydrocephalus_Ventriculomegaly
Gene: KIF7EnsemblGeneIds (GRCh38): ENSG00000166813
EnsemblGeneIds (GRCh37): ENSG00000166813
OMIM: 611254, Gene2Phenotype
KIF7 is in 19 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; 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.
Sources: Expert listCreated: 8 Aug 2020, 12:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hydrolethalus syndrome 2, MIM# 614120; Acrocallosal syndrome
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Hydrolethalus syndrome 2, MIM# 614120
- Acrocallosal syndrome
- OMIM
- 611254
- Clinvar variants
- Variants in KIF7
- Penetrance
- None
- Publications
- Panels with this gene
-
- Joubert syndrome and other neurological ciliopathies
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Clefting disorders
- Prepair 1000+
- Renal Ciliopathies and Nephronophthisis
- Intellectual disability syndromic and non-syndromic
- Hydrocephalus_Ventriculomegaly
- Skeletal Dysplasia_Fetal
- Macrocephaly_Megalencephaly
- Regression
- Skeletal dysplasia
- Fetal anomalies
- Mendeliome
- Prepair 500+
- Callosome
- Ataxia - paediatric
- Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kif7 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kif7 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: KIF7 was added gene: KIF7 was added to Hydrocephalus_Ventriculomegaly. Sources: Expert list Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF7 were set to 26174511; 21552264 Phenotypes for gene: KIF7 were set to Hydrolethalus syndrome 2, MIM# 614120; Acrocallosal syndrome Review for gene: KIF7 was set to AMBER