Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: NOP10

Red List (low evidence)

Single family reported.

Created: 11 Apr 2020, 4:46 a.m. | Last Modified: 11 Apr 2020, 4:46 a.m.

Panel Version: 2.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dyskeratosis congenita, autosomal recessive 1, MIM#224230

Publications

• 17507419

Green List (high evidence)

Comment on list classification: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 1 variant reported in 3 affected members of a consanguineous Saudi Arabian family.

Created: 9 May 2018, 8:56 a.m.

I don't know

One family reported, therefore left Amber until further evidence to support Green rating by external expert

Created: 11 Jul 2018, 4:13 p.m.

One family with a homozygous NOP10 pathogenic variant, c.100C>T (p.Arg34Trp), in the affected individual has been described Walne et al. 2007 (PMID: 17507419). The reported pathogenic variant resulted in reduced TERC levels and shortened telomeres.

Created: 4 Jul 2018, 4:45 p.m.

OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): NOP10 .PanelApp HGNC gene symbol check: NOP10 . IUIS Disease: AR-DKC due to nucleolar protein family A member 3 (NHP3) or NOP10 deficiency . IUIS Inheritance: AR .T cells: Normal, .B cells: Variable, .IUIS Other affected cells: N/A. IUIS Associated features: Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients. IUIS Major category: Combined immunodeficiencies with associated or syndromic features. IUIS Subcategory: DyskeratosIs Congenita (DKC), Myelodysplasia, Short Telomeres

Created: 2 Jul 2018, 10:35 a.m.

This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.

Created: 20 Apr 2018, 12:25 p.m.

Original metadata downloaded from ESID Registry. ESID_Gene_original: NOP10, PanelApp HGNC gene symbol check: NOP10, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Other well defined PIDs / Dyskeratosis congenita / Dyskeratosis congenita; Other well defined PIDs / Dyskeratosis congenita / Hoyeraal-Hreidarsson syndrome

Created: 17 Apr 2018, 12:29 p.m.

Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: NOP10, GRID_Gene_Symbol: NOP10, GRID_Transcript_ENS_Community submitted: ENST00000328848, GRID_Transcript_RefSeq: NM_018648.3, GRID_Transcript_ENS_used_on_Production: ENST00000328848

Created: 17 Apr 2018, 12:12 p.m.