Malformations of cortical development
Gene: KATNB1

KATNB1 (katanin regulatory subunit B1)
EnsemblGeneIds (GRCh38): ENSG00000140854
EnsemblGeneIds (GRCh37): ENSG00000140854
OMIM: 602703, Gene2Phenotype
KATNB1 is in 5 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment on list classification: Ian Berry (Leeds Genetics Laboratory) considers that there is good evidence for involvement of this gene in Malformations of cortical development
Created: 22 Nov 2016, 12:42 p.m.

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 6 homozygous variants reported
Created: 22 Nov 2016, 12:39 p.m.

Created: 22 Nov 2016, 12:39 p.m.

Panel version: 0.26

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Other

Phenotypes

Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534

OMIM

602703

Clinvar variants

Variants in KATNB1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

29 Jan 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: KATNB1 were changed from Lissencephaly 6, with microcephaly 616212 to Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

22 Nov 2016, Gel status: 4