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Intellectual disability syndromic and non-syndromic

Gene: KATNAL2

Red List (low evidence)

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

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

Classified DISPUTED by ID and Autism GCEP on 20/05/2020 - https://search.clinicalgenome.org/CCID:005176
Created: 14 May 2024, 6:20 a.m. | Last Modified: 14 May 2024, 6:20 a.m.
Panel Version: 0.5821

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
complex neurodevelopmental disorder MONDO:0100038

Publications

  • https://search.clinicalgenome.org/CCID:005176

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Variants in this gene are associated with autism in large-scale ASD studies, no specific link to monogenic ID.
Created: 8 Feb 2020, 8:57 a.m. | Last Modified: 8 Feb 2020, 8:57 a.m.
Panel Version: 0.2054

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autism

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Autism
OMIM
614697
Clinvar variants
Variants in KATNAL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Feb 2020, Gel status: 1

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: 1

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: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: katnal2 has been classified as Red List (Low Evidence).

8 Feb 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KATNAL2 were changed from to Autism

8 Feb 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KATNAL2 were set to 22495311; 21572417; 22495309; 22495306

8 Feb 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KATNAL2 were set to

8 Feb 2020, Gel status: 1

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

8 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: katnal2 has been classified as Red List (Low Evidence).

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KATNAL2 was set to Unknown