Surfactant deficiency
Gene: NKX2-1EnsemblGeneIds (GRCh38): ENSG00000136352
EnsemblGeneIds (GRCh37): ENSG00000136352
OMIM: 600635, Gene2Phenotype
NKX2-1 is in 18 panels
3 reviews
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
On Royal Brompton Childhood interstitial lung disease (surfactant deficiency) panel, and pathogenic variants reported . Multiple reports in literature and ClinVar. Strong evidence for association.Created: 20 Aug 2019, 4:28 p.m. | Last Modified: 20 Aug 2019, 4:28 p.m.
Panel Version: 0.11
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neuroendocrine cell hyperplasia of infancy; Choreoathetosis, hypothyroidism, and neonatal respiratory distress (OMIM 610978)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
Comment on list classification: Discussed with respiratory specialist test group on 18/01/19. Could present with respiratory distress secondary to hypothyroidism before other syndromic features are recognised, therefore appropriate for inclusion on this panel.Created: 20 Jan 2019, 6:35 p.m.
Louise Daugherty (Genomics England Curator)
Added MOI, Phenotypes and Publications as suggested by expert review Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)Created: 21 Aug 2019, 1:05 p.m. | Last Modified: 21 Aug 2019, 1:05 p.m.
Panel Version: 0.19
From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: agreed there is enough evidence to rate this gene GreenCreated: 21 Jan 2019, 10:16 p.m.
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: NKX2-1; Suggested initial gene rating: Green; Evidence for inclusion: Choreoathetosis, hypothyroidism, and neonatal respiratory distress; cause of neonatal respiratory failure.; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 5 Dec 2018, 2:58 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Phenotypes
-
- Neuroendocrine cell hyperplasia of infancy
- Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978
- OMIM
- 600635
- Clinvar variants
- Variants in NKX2-1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Familial pulmonary fibrosis
- 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
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: NKX2-1 were changed from Neuroendocrine cell hyperplasia of infancy; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 to Neuroendocrine cell hyperplasia of infancy; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: NKX2-1 were changed from to Neuroendocrine cell hyperplasia of infancy; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: NKX2-1 were set to
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: NKX2-1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Entity classified by Genomics England curator
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Gene: nkx2-1 has been classified as Green List (High Evidence).
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to NKX2-1. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: NKX2-1 was added gene: NKX2-1 was added to Surfactant deficiency. Sources: NHS GMS Mode of inheritance for gene: NKX2-1 was set to