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Red cell disorders

Gene: NHP2

Red List (low evidence)
NHP2 (NHP2 ribonucleoprotein)
EnsemblGeneIds (GRCh38): ENSG00000145912
EnsemblGeneIds (GRCh37): ENSG00000145912
OMIM: 606470, Gene2Phenotype
NHP2 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Pancytopaenia.
Created: 14 Sep 2020, 12:55 a.m. | Last Modified: 16 Sep 2021, 8:05 a.m.
Panel Version: 0.182

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dyskeratosis congenita, autosomal recessive 2, MIM# 613987

Publications

Created: 14 Sep 2020, 12:55 a.m.
Last Modified: 16 Sep 2021, 8:05 a.m.
Panel version: 0.182

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Yorkshire and North East GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 2, MIM# 613987
OMIM
606470
Clinvar variants
Variants in NHP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nhp2 has been classified as Red List (Low Evidence).

16 Sep 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NHP2 were changed from 613987 Dyskeratosis congenita, autosomal recessive 2 to Dyskeratosis congenita, autosomal recessive 2, MIM# 613987

16 Sep 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NHP2 were set to

16 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nhp2 has been classified as Red List (Low Evidence).

15 Oct 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes 613987 Dyskeratosis congenita, autosomal recessive 2 for gene: NHP2

15 Sep 2020, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NHP2 was added gene: NHP2 was added to Rare anaemia_GEL. Sources: NHS GMS,Yorkshire and North East GLH,Expert Review Amber Mode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NHP2 were set to 613987 Dyskeratosis congenita, autosomal recessive 2