Inherited non-medullary thyroid cancer
Gene: NKX2-1
NKX2-1 (NK2 homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000136352
EnsemblGeneIds (GRCh37): ENSG00000136352
OMIM: 600635, Gene2Phenotype
NKX2-1 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000136352
EnsemblGeneIds (GRCh37): ENSG00000136352
OMIM: 600635, Gene2Phenotype
NKX2-1 is in 18 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least one variant reported in four unrelated cases, segregation demonstrated in one family, supporting in vitro evidence also provided (PMID 19176457)Created: 7 Aug 2017, 12:16 p.m.
Emma Woodward (Manchester Centre for Genomic Medicine)
germline mutation has been described (rarely) in unrelated individuals with NMTC. not clear if resultant phenotype is MNG or NMTC.Created: 13 Jun 2017, 2:33 p.m.
Fiona Lalloo (Manchester Centre for Genomic Medicine)
Has been described in two families with variable phenotype. No other evidence. No clinical utilityCreated: 9 Jun 2017, 9:56 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- {Thyroid cancer, monmedullary, 1} 188550
- OMIM
- 600635
- Clinvar variants
- Variants in NKX2-1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Pulmonary fibrosis familial
- Familial pulmonary fibrosis
- Ataxia and cerebellar anomalies - narrow panel
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Congenital hypothyroidism
- Paroxysmal central nervous system disorders
- Hereditary ataxia with onset in adulthood
- Surfactant deficiency
- Intellectual disability
- Pituitary hormone deficiency
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Adult onset dystonia, chorea or related movement disorder
- Inherited non-medullary thyroid cancer
- Brain channelopathy
- Fetal anomalies
History Filter Activity
7 Aug 2017, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)All genes have been reviewed and the reviews evaluated. 07.08.2017
7 Aug 2017, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
7 Aug 2017, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for NKX2-1 were set to 19176457
18 May 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)NKX2-1 was created by sleigh
18 May 2017, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)NKX2-1 was added to Inherited non-medullary thyroid cancerpanel. Sources: Radboud University Medical Center, Nijmegen