Familial Hirschsprung Disease
Gene: NKX2-1EnsemblGeneIds (GRCh38): ENSG00000136352
EnsemblGeneIds (GRCh37): ENSG00000136352
OMIM: 600635, Gene2Phenotype
NKX2-1 is in 18 panels
2 reviews
Erwin Brosens (Erasmus MC)
Rebecca Foulger (Genomics England curator)
Comment on list classification: Updated rating from Red to Amber after discussion with Helen Brittain: 1 red review. 3 variants reported in PMID:15548547 and PMID:17640327 but insufficient family tree/additional information in the papers to currently use this gene in tiering. Added 'watchlist' tag to collate further information.Created: 28 Aug 2017, 9:21 a.m.
PMID:15548547 (2005) identified a Chinese patient with HSCR who was heterozygous for a gly322-to-ser (G322S) mutation in the TITF1 (NKX2-1) gene. The authors further analyzed TITF1/NKX2-1 (PMID:17640327, 2007) and identified a M3L mutation in 2 Australian HSCR patients.Created: 5 Jun 2017, 3:10 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hirschsprung disease
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Other
- Phenotypes
-
- Hirschsprung disease
- short-segment aganglionosis
- Tags
- OMIM
- 600635
- Clinvar variants
- Variants in NKX2-1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Familial pulmonary fibrosis
- Intellectual disability
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Adult onset neurodegenerative disorder
- Surfactant deficiency
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Pulmonary fibrosis familial
- Inherited non-medullary thyroid cancer
- Brain channelopathy
- Fetal anomalies
- Congenital hypothyroidism
- Pituitary hormone deficiency
- Paroxysmal central nervous system disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)18th October 2017: Revised and approved to Version 1.0 after expert and curator review. An expert list from Mr. Simon Kenny and Professor Robert Hofstra's groups (Alder Hey - Erasmus MC) formed the basis of the original panel. The expert list was then expanded based on a review of literature. Many of the literature genes remain red on the V1.0 panel as they were identified through association studies and/or they represent susceptibility/risk factors for Hirschsprung's disease (HSCR). Sumita Chhabra (Alder Hey) and Erwin Brosens (Erasmus) provided extensive feedback for genes on the panel, together with reviews from Merce Garcia-Barcelo.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for NKX2-1 were set to Hirschsprung disease; short-segment aganglionosis
Added New Source
Rebecca Foulger (Genomics England curator)NKX2-1 was added to Familial Hirschsprung Diseasepanel. Sources: Other
Created
Rebecca Foulger (Genomics England curator)NKX2-1 was created by rfoulger