Surfactant deficiency

Gene: NKX2-1

Green List (high evidence)

NKX2-1 (NK2 homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000136352
EnsemblGeneIds (GRCh37): ENSG00000136352
OMIM: 600635, Gene2Phenotype
NKX2-1 is in 16 panels

3 reviews

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

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 (Genomics England Curator)

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)

Green List (high evidence)

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 Green
Created: 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 given
Created: 5 Dec 2018, 2:58 p.m.

History Filter Activity

17 Mar 2021, Gel status: 3

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

21 Aug 2019, Gel status: 3

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

21 Aug 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: NKX2-1 were set to

21 Aug 2019, Gel status: 3

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

20 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Anna de Burca (Genomics England Curator)

Gene: nkx2-1 has been classified as Green List (High Evidence).

5 Dec 2018, Gel status: 3

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)

5 Dec 2018, Gel status: 1

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