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  2. Lissencephaly and Band Heterotopia
  3. KATNB1
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Lissencephaly and Band Heterotopia

Gene: KATNB1

Green List (high evidence)
KATNB1 (katanin regulatory subunit B1)
EnsemblGeneIds (GRCh38): ENSG00000140854
EnsemblGeneIds (GRCh37): ENSG00000140854
OMIM: 602703, Gene2Phenotype
KATNB1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 9 families reported with bi-allelic variants in this gene.
Sources: Expert list
Created: 23 Jan 2020, 11:54 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lissencephaly 6, with microcephaly, MIM# 616212

Publications

Created: 23 Jan 2020, 11:54 p.m.

Panel version: 0.13

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Lissencephaly 6, with microcephaly, MIM# 616212
OMIM
602703
Clinvar variants
Variants in KATNB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: katnb1 has been classified as Green List (High Evidence).

23 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: katnb1 has been classified as Green List (High Evidence).

23 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KATNB1 was added gene: KATNB1 was added to Lissencephaly and Band Heterotopia. Sources: Expert list Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KATNB1 were set to 25521378; 25521379; 26640080 Phenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly, MIM# 616212 Review for gene: KATNB1 was set to GREEN