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  2. Pierre Robin Sequence
  3. KIF15
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Pierre Robin Sequence

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 -3SD 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, 6:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Braddock-Carey syndrome 2 - MIM#619981

Publications

Created: 4 Aug 2022, 6:49 a.m.

Panel version: 0.41

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 Pierre Robin Sequence. 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