Surfactant deficiency
Gene: NKX2-1
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
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.
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.
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
Phenotypes for gene: NKX2-1 were changed from to Neuroendocrine cell hyperplasia of infancy; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978
Publications for gene: NKX2-1 were set to
Mode of inheritance for gene: NKX2-1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: nkx2-1 has been classified as Green List (High Evidence).
Source Expert Review Green was added to NKX2-1. Rating Changed from Red List (low evidence) to Green List (high evidence)
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