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  2. GMS Respiratory specialist test group Laterality disorders and isomerism
  3. NKX2-5
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GMS Respiratory specialist test group Laterality disorders and isomerism

Gene: NKX2-5

Amber List (moderate evidence)
NKX2-5 (NK2 homeobox 5)
EnsemblGeneIds (GRCh38): ENSG00000183072
EnsemblGeneIds (GRCh37): ENSG00000183072
OMIM: 600584, Gene2Phenotype
NKX2-5 is in 16 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

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: NKX2-5; Suggested intial gene rating: Amber; Evidence for inclusion: OMIM ASD7; unclear if associated w/laterality defects; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 26 Nov 2018, 2:25 p.m.
Created: 26 Nov 2018, 2:25 p.m.

Panel version: 0.1

History Filter Activity

26 Nov 2018, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to NKX2-5. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

26 Nov 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: NKX2-5 was added gene: NKX2-5 was added to GMS Respiratory specialist test group Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: NKX2-5 was set to