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Intellectual disability syndromic and non-syndromic

Gene: PYGL

Red List (low evidence)

PYGL (glycogen phosphorylase L)
EnsemblGeneIds (GRCh38): ENSG00000100504
EnsemblGeneIds (GRCh37): ENSG00000100504
OMIM: 613741, Gene2Phenotype
PYGL is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

ID is not part of the phenotype.
Created: 9 Dec 2019, 1:52 a.m. | Last Modified: 9 Dec 2019, 1:52 a.m.
Panel Version: 0.1035

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease VI, MIM#232700

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Glycogen storage disease VI, MIM#232700
OMIM
613741
Clinvar variants
Variants in PYGL
Penetrance
None
Panels with this gene

History Filter Activity

9 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PYGL were changed from to Glycogen storage disease VI, MIM#232700

9 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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