Malformations of cortical development

Gene: KATNB1

Green List (high evidence)

KATNB1 (katanin regulatory subunit B1)
EnsemblGeneIds (GRCh38): ENSG00000140854
EnsemblGeneIds (GRCh37): ENSG00000140854
OMIM: 602703, Gene2Phenotype
KATNB1 is in 3 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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Lissencephaly 6, with microcephaly 616212
OMIM
602703
Clinvar variants
Variants in KATNB1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to Version 1 on 22nd November 2016

22 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

22 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

22 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

22 Nov 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for KATNB1 were set to 25521379;25521378

22 Nov 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for KATNB1 were set to Lissencephaly 6, with microcephaly 616212

11 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

KATNB1 was created by sleigh

11 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

KATNB1 was added to Malformations of cortical developmentpanel. Sources: Other