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| Fetal anomalies v0.2655 | HAND1 | Zornitza Stark Marked gene: HAND1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2655 | HAND1 | Zornitza Stark Gene: hand1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2655 | HAND1 | Zornitza Stark Phenotypes for gene: HAND1 were changed from Congenital heart defects to Congenital heart disease, MONDO:0005453 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2654 | HAND1 | Zornitza Stark Publications for gene: HAND1 were set to 19586923; 28112363; 18276607; 27942761; 31286141 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2653 | HAND1 | Zornitza Stark Classified gene: HAND1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2653 | HAND1 | Zornitza Stark Gene: hand1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2366 | HAND1 |
Krithika Murali edited their review of gene: HAND1: Added comment: No OMIM gene disease association PMID: 28112363 Li et al 2017 - HAND1 gene sequenced in 158 unrelated patients with CHDs and 600 controls. A de novo heterozygous truncating variant was identified (c.394A>T p.K132X) in a 5 month old body with double outlet right ventricle and VSD. Absent from gnomad, not present in unaffected parents or in controls. Functional analysis supported loss of HAND1 transcriptional activity. PMID: 29317578 Wang et al 2017 – article in Chinese, abstract in English. A total of 125 patients with congenital VSD and 210 controls. HAND1 truncating variant identified in an individual with VSD( c.355G>T E119X ). Absent from population database, x1 missense variant at same position 28 hets and x1 synonymous variant with 1 het present in gnomad. No segregation data PMID: 29179274 Zhi et al 2017 - A novel heterozygous mutation, a substitution of thymine for guanine at nucleotide 346 (c.346G>T), predicting the conversion of a glutamic acid-encoding codon into a stop codon at codon 116 (p.E116X), was detected in a patient with sporadic DCM out of a cohort of 120 Chinese patients with DCM versus 200 healthy controls. Absent from gnomad. No segregation data. Article in Chinese, abstract in English, unlikely to be congenital onset. PMID: 27942761 Wang et al 2017 - 165 unrelated patients with CHD and 600 unrelated controls. Heterozygous missense HAND1 variant identified in a patient with TOF (c.352C>T p.R118C) . Functional studies supporting significantly reduced transcriptional activity, absent from gnomad, damaging in silicos, no parental testing. PMID: 26581070 Zhou et al 2016 - heterozygous truncating HAND1 variant, c.313A > T p.R105X identified in a DCM family, absent in controls, reduced transcrptional activities, x1 het inframe deletion at the same position in gnomad and x1 synonymous variant. Segregated with family members with DCM and VSD. PMID: 31286141 Firulli et al 2020 – mouse models showing that myocardial deletion of Hand1 resulted in morphological defects including interventricular septal defects, abnormal LV papillary muscles and cardiac conduction system defects PMID: 29016838 Firulli et al 2017 - Hand1A126FS mutation does exhibit embryonic lethal cardiac defects in mouse models; Changed rating: AMBER; Changed publications: 31286141, 29016838, 29317578, 29179274, 28112363, 27942761, 26581070 |
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| Fetal anomalies v0.1469 | HAND1 |
Krithika Murali gene: HAND1 was added gene: HAND1 was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: HAND1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HAND1 were set to 19586923; 28112363; 18276607; 27942761; 31286141 Phenotypes for gene: HAND1 were set to Congenital heart defects Review for gene: HAND1 was set to GREEN Added comment: Testing of hypoplastic human hearts (18276607) and those with septatation defects (19586923) demonstrated impairment in HAND1 function Germline LoF variants associated with congenital heart defects Sources: Literature, Expert list |
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