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| Fetal anomalies v0.1555 | NKX2-6 | Zornitza Stark Publications for gene: NKX2-6 were set to 24421281; 15649947 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1554 | NKX2-6 | Zornitza Stark Classified gene: NKX2-6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1554 | NKX2-6 | Zornitza Stark Gene: nkx2-6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1553 | NKX2-6 | Zornitza Stark Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1553 | NKX2-6 | Zornitza Stark edited their review of gene: NKX2-6: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1542 | NKX2-6 |
Krithika Murali edited their review of gene: NKX2-6: Added comment: Review updated - 3 unrelated families now reported PMID 15649947 (Heathcote et al 2005) - first reported biallelic variants NKX2-6 associated with type 1 truncus arteriosis in a large consanguineous family previously described by (Abushaban et al 2003 - 12574981) PMID 24421281 (Ta-Shma et al 2014) Subsequently reported, another consanguineous family with conotruncal defects (including VSD and TA) and homozygous nonsense NKX2-6 variants. One individual from that family was also noted to have athymia PMID 32198970 (Ritter et al 2019) - Reported compound het variants in x2 siblings with truncus arteriosus (2nd sibling diagnosed antenatally) from non-consanguineous family Additional studies of NKX2-6 identified a - heterozygous missense variant c.472A > C (p.Lys158Gln) that segregated with VSD (PMID 25380965 Wang et al 2015) - heterozygous missense variant c.525G > C (p.Gln175His) that segregated in a family with atrial fibrillation (PMID 25319568 Wang et al 2014) Included in PanelApp as biallelic inheritance but possibility of less severe phenotype with monoallelic inheritance possible - but one reported family only.; Changed publications: 24421281, 15649947, 32198970, 25380965, 25319568 |
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| Fetal anomalies v0.1506 | NKX2-6 | Zornitza Stark Marked gene: NKX2-6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1506 | NKX2-6 | Zornitza Stark Gene: nkx2-6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1506 | NKX2-6 | Zornitza Stark Phenotypes for gene: NKX2-6 were changed from to Conotruncal heart malformations - MIM#217095; Persistent truncus arteriosus - MIM#217095 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1505 | NKX2-6 | Zornitza Stark Classified gene: NKX2-6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1505 | NKX2-6 | Zornitza Stark Gene: nkx2-6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1504 | NKX2-6 | Zornitza Stark reviewed gene: NKX2-6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Conotruncal heart malformations - MIM#217095, Persistent truncus arteriosus - MIM#217095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1469 | NKX2-6 | Krithika Murali Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1469 | NKX2-6 | Krithika Murali edited their review of gene: NKX2-6: Added comment: Homozygous variants were identified in multiple affected individuals from two unrelated consanguineous families. Phenotypic features included multiple conotruncal malformations, persistent truncus arteriosus and athymia; Changed phenotypes: Conotruncal heart malformations - MIM#217095, Persistent truncus arteriosus - MIM#217095 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1469 | NKX2-6 |
Krithika Murali gene: NKX2-6 was added gene: NKX2-6 was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: NKX2-6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NKX2-6 were set to 24421281; 15649947 Review for gene: NKX2-6 was set to GREEN Added comment: Homozygous variants were identified in multiple affected individuals from two unrelated consanguineous families. Phenotypic features included multiple conotruncal malformations and athymia Sources: Literature, Expert list |
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