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Mendeliome

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

Bi-allelic variants: two families reported with male infertility, supportive functional data.

Mono-allelic variants: association reported in large-scale ASD studies.
Created: 14 Mar 2022, 7:10 a.m. | Last Modified: 14 Mar 2022, 7:10 a.m.
Panel Version: 0.11346

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Oligo-astheno-teratozoospermia; Autism

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Oligo-astheno-teratozoospermia
  • 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).

14 Mar 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KATNAL2 were changed from to Oligo-astheno-teratozoospermia; Autism

14 Mar 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KATNAL2 were set to

14 Mar 2022, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KATNAL2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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).

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