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Intellectual disability syndromic and non-syndromic

Gene: KIF1B

Red List (low evidence)

KIF1B (kinesin family member 1B)
EnsemblGeneIds (GRCh38): ENSG00000054523
EnsemblGeneIds (GRCh37): ENSG00000054523
OMIM: 605995, Gene2Phenotype
KIF1B is in 5 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Red List (low evidence)

Compound heterozygous missense variants reported in a woman with severe hypotonia, hypsarrhythmia, coloboma, hypoplasia of corpus callosum, severe neurodevelopmental delay.
Sources: Literature
Created: 5 Jul 2021, 6:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypotonia; coloboma; hypoplasia of the corpus callosum; severe neurodevelopmental delay

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Hypotonia
  • coloboma
  • hypoplasia of the corpus callosum
  • severe neurodevelopmental delay
OMIM
605995
Clinvar variants
Variants in KIF1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jul 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kif1b has been classified as Red List (Low Evidence).

8 Jul 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kif1b has been classified as Red List (Low Evidence).

5 Jul 2021, Gel status: 0

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

Paul De Fazio (Victorian Clinical Genetics Services)

gene: KIF1B was added gene: KIF1B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: KIF1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF1B were set to 33710394 Phenotypes for gene: KIF1B were set to Hypotonia; coloboma; hypoplasia of the corpus callosum; severe neurodevelopmental delay Review for gene: KIF1B was set to RED gene: KIF1B was marked as current diagnostic