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| Laterality disorders and isomerism v1.44 | NKX2-5 | Ivone Leong Publications for gene: NKX2-5 were set to 25742962; 26805889 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.43 | NKX2-5 |
Ivone Leong edited their review of gene: NKX2-5: Added comment: This gene is associated with a phenotype in OMIM and Gene2Phenotype. PMID: 12414819 describes 2 unrelated families. Family 1: 4 family members with variant in NKX2-5 had atrial septum defect. One of these family members was also diagnosed with polyspenia, midline symmetrical liver, ascending colon and caecum were shifted to the midline and forwards with the small intestine on the left. Family 2: 3 affected family members had atrial septum defect. PMID: 25118008 describes a proband with a frameshift variant in NKX2-5 with the following phenotypes: double outlet right ventricle, common AV canal, total anomalous pulmonary venous connection, asplenia, failure to thrive and short stature. The proband also had distorted organ position and liver was centrally located and spleen was not identied at 1 week of age. Also had intestinal malformation and underwent Ladd procedure and gastrostomy tube placement at 3 weeks. The authors in this paper notes that NKX2-5 variants are associated with cardiac malformations that are commonly seen in patients with heterotaxy (i.e. transposition of great artieries and double outlet right ventricle) and also with asplenia in some patients. After discussion with the Genomics England Clinical Team it was decided that this gene should remain Amber on this panel.; Changed rating: AMBER; Changed publications: 12414819, 25118008 |
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| Laterality disorders and isomerism v1.41 | NKX2-5 | Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Ventricular septal defect 3, OMIM:614432;Tetralogy of Fallot, OMIM:187500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.41 | NKX2-5 | Ivone Leong Phenotypes for gene: NKX2-5 were changed from Ventricular septal defect 3, OMIM:614432; Tetralogy of Fallot, OMIM:187500 to visceral heterotaxy, MONDO:0018677 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.39 | NKX2-5 | Ivone Leong Phenotypes for gene: NKX2-5 were changed from to Ventricular septal defect 3, OMIM:614432; Tetralogy of Fallot, OMIM:187500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.27 | NKX2-5 | Ivone Leong Mode of inheritance for gene: NKX2-5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.26 | NKX2-5 | Ivone Leong Publications for gene: NKX2-5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.5 | NKX2-5 | Zornitza Stark reviewed gene: NKX2-5: Rating: RED; Mode of pathogenicity: None; Publications: 25742962, 26805889; Phenotypes: Ventricular septal defect 3 (MIM#614432), Tetralogy of Fallot (MIM#187500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.3 | NKX2-5 |
Louise Daugherty Source Expert Review Amber was added to NKX2-5. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Laterality disorders and isomerism v0.2 | NKX2-5 | Louise Daugherty reviewed gene: NKX2-5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.1 | NKX2-5 |
Louise Daugherty gene: NKX2-5 was added gene: NKX2-5 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: NKX2-5 was set to |
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