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Intellectual disability syndromic and non-syndromic

Gene: DLAT

Amber List (moderate evidence)

DLAT (dihydrolipoamide S-acetyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000150768
EnsemblGeneIds (GRCh37): ENSG00000150768
OMIM: 608770, Gene2Phenotype
DLAT is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Only two families with ID reported; third individual had paroxysmal dyskinesia.
Created: 1 Feb 2020, 9:31 a.m. | Last Modified: 1 Feb 2020, 9:31 a.m.
Panel Version: 0.1895
ID is part of the phenotype.
Created: 30 Nov 2019, 11:41 p.m. | Last Modified: 30 Nov 2019, 11:41 p.m.
Panel Version: 0.94

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pyruvate dehydrogenase E2 deficiency, MIM#245348

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Pyruvate dehydrogenase E2 deficiency, MIM#245348
OMIM
608770
Clinvar variants
Variants in DLAT
Penetrance
None
Panels with this gene

History Filter Activity

1 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Nov 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DLAT were changed from to Pyruvate dehydrogenase E2 deficiency, MIM#245348

30 Nov 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DLAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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