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Regression

Gene: GCLC

Green List (high evidence)

GCLC (glutamate-cysteine ligase catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000001084
EnsemblGeneIds (GRCh37): ENSG00000001084
OMIM: 606857, Gene2Phenotype
GCLC is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 4 individuals had additional neurological manifestations including cognitive impairment, neuropathy, ataxia, and myopathy.
Created: 7 Sep 2021, 4:28 a.m. | Last Modified: 7 Sep 2021, 4:28 a.m.
Panel Version: 0.368

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Haemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency, MIM# 230450

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Haemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency, MIM# 230450
OMIM
606857
Clinvar variants
Variants in GCLC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GCLC were changed from to Haemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency, MIM# 230450

7 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GCLC were set to

7 Sep 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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