Clefting
Gene: NKX2-5
NKX2-5 (NK2 homeobox 5)
EnsemblGeneIds (GRCh38): ENSG00000183072
EnsemblGeneIds (GRCh37): ENSG00000183072
OMIM: 600584, Gene2Phenotype
NKX2-5 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000183072
EnsemblGeneIds (GRCh37): ENSG00000183072
OMIM: 600584, Gene2Phenotype
NKX2-5 is in 16 panels
1 review
Olivia Niblock (Genomics England Curator)
None of the four main sources cited NKX2-5 as being related to clefting or clefting-related disorders. One paper (cited) highlighted that both clefting and cardiac phenotypes can be affected by an epigenetic modification called sumoylation.Created: 31 May 2017, 3:30 p.m.
Mode of inheritance
Unknown
Phenotypes
CONOTRUNCAL HEART MALFORMATIONS; CTHM
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- CONOTRUNCAL HEART MALFORMATIONS
- CTHM
- OMIM
- 600584
- Clinvar variants
- Variants in NKX2-5
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Laterality disorders and isomerism
- Dilated and arrhythmogenic cardiomyopathy
- Familial non syndromic congenital heart disease
- DDG2P
- Dilated Cardiomyopathy and conduction defects
- Intellectual disability
- Clefting
- Progressive cardiac conduction disease
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Congenital hypothyroidism
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Sudden death in young people
History Filter Activity
31 May 2017, Gel status: 1
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
31 May 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)NKX2-5 was added to Cleftingpanel. Sources: Expert Review Red
31 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)NKX2-5 was created by ellenmcdonagh