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Red cell disorders

Gene: NT5C3A

Green List (high evidence)
NT5C3A (5'-nucleotidase, cytosolic IIIA)
EnsemblGeneIds (GRCh38): ENSG00000122643
EnsemblGeneIds (GRCh37): ENSG00000122643
OMIM: 606224, Gene2Phenotype
NT5C3A is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 3 unrelated families reported.
Created: 13 Sep 2021, 11:11 a.m. | Last Modified: 13 Sep 2021, 11:11 a.m.
Panel Version: 0.111

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anaemia, haemolytic, due to UMPH1 deficiency, MIM# 266120

Publications

Created: 13 Sep 2021, 11:11 a.m.
Last Modified: 13 Sep 2021, 11:11 a.m.
Panel version: 0.111

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
  • Anaemia, haemolytic, due to UMPH1 deficiency, MIM# 266120
OMIM
606224
Clinvar variants
Variants in NT5C3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nt5c3a has been classified as Green List (High Evidence).

13 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NT5C3A were changed from Anemia, hemolytic, due to UMPH1 deficiency, 266120; 266120 Anemia, hemolytic, due to UMPH1 deficiency to Anaemia, haemolytic, due to UMPH1 deficiency, MIM# 266120

13 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NT5C3A were set to 11369620; 12714505

15 Oct 2020, Gel status: 3

Set Phenotypes, Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Anemia, hemolytic, due to UMPH1 deficiency, 266120; 266120 Anemia, hemolytic, due to UMPH1 deficiency for gene: NT5C3A Publications for gene NT5C3A were updated from 12714505; 11369620 to 11369620; 12714505

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: NT5C3A was added gene: NT5C3A 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: NT5C3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NT5C3A were set to 12714505; 11369620 Phenotypes for gene: NT5C3A were set to 266120 Anemia, hemolytic, due to UMPH1 deficiency; Anemia, hemolytic, due to UMPH1 deficiency, 266120