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Red cell disorders

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)

More than 5 unrelated families reported.
Created: 7 Sep 2021, 3:56 a.m. | Last Modified: 7 Sep 2021, 3:56 a.m.
Panel Version: 0.57

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 7 Sep 2021, 3:56 a.m.
Last Modified: 7 Sep 2021, 3:56 a.m.
Panel version: 0.57

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
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 Haemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, MIM# 230450 to Haemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency, MIM# 230450

7 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GCLC were changed from 230450 Glutamate-cysteine ligase deficiency; Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450; Enzyme Disorder; Glutamate-cysteine ligase deficiency; 230450 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency to Haemolytic anemia 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 10515893

15 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes 230450 Glutamate-cysteine ligase deficiency; Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450; Enzyme Disorder; Glutamate-cysteine ligase deficiency; 230450 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency for gene: GCLC

15 Sep 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GCLC was added gene: GCLC was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: GCLC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCLC were set to 10515893 Phenotypes for gene: GCLC were set to Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450; Enzyme Disorder; 230450 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency; 230450 Glutamate-cysteine ligase deficiency; Glutamate-cysteine ligase deficiency