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Fetal anomalies

Gene: KIF21B

Green List (high evidence)

KIF21B (kinesin family member 21B)
EnsemblGeneIds (GRCh38): ENSG00000116852
EnsemblGeneIds (GRCh37): ENSG00000116852
OMIM: 608322, Gene2Phenotype
KIF21B is in 4 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Monoallelic variants associated with a neurodevelopmental disorder. Phenotypic features include ID, corpus callosum anomalies and microcephaly. PMID 32415109 report 4 unrelated individuals, 2 had IUGR +/- oligohydramnios.
Sources: Literature
Created: 1 Mar 2022, 3:38 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Global developmental delay; Intellectual disability; Abnormality of brain morphology; Microcephaly

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092
  • Global developmental delay
  • Intellectual disability
  • Abnormality of brain morphology
  • Microcephaly
OMIM
608322
Clinvar variants
Variants in KIF21B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kif21b has been classified as Green List (High Evidence).

1 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KIF21B were changed from Global developmental delay; Intellectual disability; Abnormality of brain morphology; Microcephaly to Neurodevelopmental disorder, MONDO:0700092; Global developmental delay; Intellectual disability; Abnormality of brain morphology; Microcephaly

1 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kif21b has been classified as Green List (High Evidence).

1 Mar 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: KIF21B was added gene: KIF21B was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: KIF21B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF21B were set to 32415109 Phenotypes for gene: KIF21B were set to Global developmental delay; Intellectual disability; Abnormality of brain morphology; Microcephaly Review for gene: KIF21B was set to GREEN