Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: NOP10
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
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.
One family reported, therefore left Amber until further evidence to support Green rating by external expertCreated: 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 TelomeresCreated: 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 syndromeCreated: 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: ENST00000328848Created: 17 Apr 2018, 12:12 p.m.
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Gene: nop10 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene NOP10 were set to Dyskeratosis congenita, autosomal recessive 1 224230, Dyskeratosis congenita 1, Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, 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, Combined immunodeficiencies with associated or syndromic features
IUIS Classification February 2018 was added to NOP10. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to NOP10. Panel: Primary immunodeficiency disorders
This gene has been classified as Amber List (Moderate Evidence).
Publications for NOP10 were set to 17507419
Phenotypes for NOP10 were set to Dyskeratosis congenita, autosomal recessive 1 224230; Dyskeratosis congenita 1; Dyskeratosis congenita; Hoyeraal-Hreidarsson syndrome
Expert Review Amber was added to NOP10. Panel: Primary immunodeficiency disorders
ESID Registry 20171117 was added to NOP10. Panel: Primary immunodeficiency disorders Phenotypes for gene NOP10 were set to Dyskeratosis congenita 1, Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome
Phenotypes for gene NOP10 were set to Dyskeratosis congenita 1
NOP10 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
NOP10 was created by Louise Daugherty