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Autism

Gene: KATNAL2

Amber List (moderate evidence)
KATNAL2 (katanin catalytic subunit A1 like 2)
EnsemblGeneIds (GRCh38): ENSG00000167216
EnsemblGeneIds (GRCh37): ENSG00000167216
OMIM: 614697, Gene2Phenotype
KATNAL2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Variants in this gene identified in several large autism cohorts.
Created: 8 Feb 2020, 8:58 a.m. | Last Modified: 8 Feb 2020, 8:58 a.m.
Panel Version: 0.60

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autism

Publications

Created: 8 Feb 2020, 8:58 a.m.
Last Modified: 8 Feb 2020, 8:58 a.m.
Panel version: 0.169

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Autism
OMIM
614697
Clinvar variants
Variants in KATNAL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: katnal2 has been classified as Amber List (Moderate Evidence).

8 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: katnal2 has been classified as Green List (High Evidence).

8 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KATNAL2 were changed from Autism to Autism

8 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KATNAL2 were changed from to Autism

8 Feb 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KATNAL2 were set to

8 Feb 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KATNAL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KATNAL2 was added gene: KATNAL2 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KATNAL2 was set to Unknown