Congenital hypothyroidism
Gene: NKX2-5EnsemblGeneIds (GRCh38): ENSG00000183072
EnsemblGeneIds (GRCh37): ENSG00000183072
OMIM: 600584, Gene2Phenotype
NKX2-5 is in 16 panels
2 reviews
Rebecca Foulger (Genomics England curator)
Comment on list classification: Updated rating from Red to Amber until further information is available. Comment from Helen Brittain: PMID:16418214 identify 4 cases from 241 cases, but all were inherited from an unaffected parent and one unaffected sibling also carried the mutation. The authors postulate polygenic inheritance.Created: 14 Feb 2017, 5:35 p.m.
Comment on mode of pathogenicity: PMID:16418214 (Dentice et al., 2006) report a dominant negative mode of action for 3 NKX2-5 mutations in patients with thyroid dysgenesis,Created: 13 Feb 2017, 5:01 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM and G2P.Created: 13 Feb 2017, 4:56 p.m.
Confirmed DD-G2P gene for 'Hypothyroidism, congenital nongoitrous, 5 (MIM:225250)'.Created: 13 Feb 2017, 4:55 p.m.
Nadia Schoenmakers (University of Cambridge)
Highly variable penetrance, ambiguity as to whether Nkx2-5 mutations alone cause CH.Created: 11 Feb 2017, 12:32 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
thyrioid ectopy, thyroid agenesis, congenital heart disease
Publications
- PMID: 16418214
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Radboud University Medical Center, Nijmegen
- Other
- Phenotypes
-
- Hypothyroidism, congenital nongoitrous, 5, 225250
- thyrioid ectopy, thyroid agenesis, congenital heart disease
- OMIM
- 600584
- Clinvar variants
- Variants in NKX2-5
- Penetrance
- Incomplete
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Laterality disorders and isomerism
- Dilated and arrhythmogenic cardiomyopathy
- Familial non syndromic congenital heart disease
- DDG2P
- Fetal anomalies
- Dilated Cardiomyopathy and conduction defects
- Clefting
- Progressive cardiac conduction disease
- Paediatric or syndromic cardiomyopathy
- Skeletal dysplasia
- Congenital hypothyroidism
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Sudden death in young people
- Intellectual disability
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)22 February 2017: Promoted to Version 1. Reviews were assessed, and panel was revised according to expert review and additional curation. After discussion with the reviewer and in-house clinicians, it was agreed to include the genes for 'combined pituitary hormone deficiency' (CPHD) on the panel, since patients can present with central hypothyroidism (CH). In these cases, CH does not occur in isolation, but is one of the evolving pituitary hormone deficiencies.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Amber List (Moderate Evidence).
Set mode of pathogenicity
Rebecca Foulger (Genomics England curator)Mode of pathogenicity for NKX2-5 was changed to Other - please provide details in the comments
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for NKX2-5 were set to Hypothyroidism, congenital nongoitrous, 5, 225250; thyrioid ectopy, thyroid agenesis, congenital heart disease
Set publications
Rebecca Foulger (Genomics England curator)Publications for NKX2-5 were set to 16418214
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for NKX2-5 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Rebecca Foulger (Genomics England curator)NKX2-5 was added to Congenital hypothyroidism or thyroid agenesispanel. Source: Radboud University Medical Center, Nijmegen
Created
Rebecca Foulger (Genomics England curator)NKX2-5 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)NKX2-5 was added to Congenital hypothyroidism or thyroid agenesispanel. Sources: Other