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  2. Bleeding and Platelet Disorders
  3. KIF15
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Bleeding and Platelet Disorders

Gene: KIF15

Red List (low evidence)
KIF15 (kinesin family member 15)
EnsemblGeneIds (GRCh38): ENSG00000163808
EnsemblGeneIds (GRCh37): ENSG00000163808
OMIM: 617569, Gene2Phenotype
KIF15 is in 5 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

PMID 28150392 Sleiman et al 2017 report one individual with homozygous R501* variant (NMD-predicted) from a consanguineous family. The child had thrombocytopenia, PRS, microcephaly <3 SD by age 6, dysmorphic facies, bilateral external auditory canal atresia and deafness, microphthalmia, clinodactyly, short stature. Variant absent from gnomAD. Parents confirmed to be carriers and unaffected siblings were carriers/homozygous wild-type.

No other SNVs reported in ClinVar. Variant is absent from gnomAD. Authors note phenotypic similarities with Braddock-Carey syndrome (21q22 contiguous deletion also involving RUNX1).
Sources: Literature
Created: 4 Aug 2022, 6:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Braddock-Carey syndrome 2 - MIM#619981

Publications

Created: 4 Aug 2022, 6:47 a.m.

Panel version: 1.13

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Braddock-Carey syndrome 2 - MIM#619981
OMIM
617569
Clinvar variants
Variants in KIF15
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: kif15 has been classified as Red List (Low Evidence).

4 Aug 2022, Gel status: 1

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

Phenotypes for gene: KIF15 were changed from ?Braddock-Carey syndrome 2 - MIM#619981 to Braddock-Carey syndrome 2 - MIM#619981

4 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: kif15 has been classified as Red List (Low Evidence).

4 Aug 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Krithika Murali (Victorian Clinical Genetics Services)

gene: KIF15 was added gene: KIF15 was added to Bleeding and Platelet Disorders. Sources: Literature Mode of inheritance for gene: KIF15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF15 were set to 28150392 Phenotypes for gene: KIF15 were set to ?Braddock-Carey syndrome 2 - MIM#619981 Review for gene: KIF15 was set to AMBER