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Intellectual disability

Gene: NHP2

Red List (low evidence)

NHP2 (NHP2 ribonucleoprotein)
EnsemblGeneIds (GRCh38): ENSG00000145912
EnsemblGeneIds (GRCh37): ENSG00000145912
OMIM: 606470, Gene2Phenotype
NHP2 is in 16 panels

2 reviews

Zornitza Stark (Australian Genomics)

I don't know

Three individuals reported altogether now, of those two had DD/ID.
Created: 5 Mar 2020, 11:14 p.m. | Last Modified: 5 Mar 2020, 11:14 p.m.
Panel Version: 3.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dyskeratosis congenita, autosomal recessive 2, MIM# 613987; Høyeraal-Hreidarsson syndrome

Publications

Louise Daugherty (Genomics England Curator)

Comment on publications: added publications to support the association to the disorder
Created: 23 Feb 2018, 5:11 p.m.
Comment on list classification: Associated with phenotype in OMIM and as a probable G2P. Biallelic variants of the gene NHP2 are known to cause Dyskeratosis congenital (DC) and have been reported in two families to date, of which only one one case has been reported with intellectual disability. There is potentially a third case for Dyskeratosis congenital PMID: 25907943 but there is no mention of intellectual disability phenotype.
From Savage et al, 2009 PMID:20301779 patients with DC are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome (MDS) or acute myelogenous leukemia (AML), solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include: abnormal pigmentation changes not restricted to the upper chest and neck, eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), and dental abnormalities (caries, periodontal disease, taurodauntism). Although most persons with DC have normal psychomotor development and normal neurologic function, significant developmental delay is present in the two variants in which additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome), of which the gene NHP2 is not involved.
Created: 23 Feb 2018, 5:04 p.m.

History Filter Activity

29 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to NHP2.

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NHP2 was added to Intellectual disability panel. Sources: Gene2Phenotype,Expert Review Red

12 Mar 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

NHP2 was created by Ellen McDonagh