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Intellectual disability syndromic and non-syndromic

Gene: AKAP6

Amber List (moderate evidence)

AKAP6 (A-kinase anchoring protein 6)
EnsemblGeneIds (GRCh38): ENSG00000151320
EnsemblGeneIds (GRCh37): ENSG00000151320
OMIM: 604691, Gene2Phenotype
AKAP6 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two cases with de novo variants, one missense, one truncating reported in this very large paper reporting multiple novel candidate genes; no functional evidence.
Created: 19 Nov 2019, 9:06 p.m. | Last Modified: 19 Nov 2019, 9:06 p.m.
Panel Version: 0.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder, MONDO:0700092, AKAP6-related

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Genetic Health Queensland
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, AKAP6-related
OMIM
604691
Clinvar variants
Variants in AKAP6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Sep 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AKAP6 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, AKAP6-related

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: akap6 has been classified as Amber List (Moderate Evidence).

6 Dec 2019, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AKAP6 were changed from to Intellectual disability

6 Dec 2019, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AKAP6 were set to

6 Dec 2019, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: AKAP6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: akap6 has been classified as Amber List (Moderate Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AKAP6 was added gene: AKAP6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: AKAP6 was set to Unknown