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| Paediatric or syndromic cardiomyopathy v1.53 | KIF20A | Ivone Leong Classified gene: KIF20A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.53 | KIF20A | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. PMID: 29357359 describes 1 family with 2 affect sibs. The authors also made a zebrafish MO model, which had a progressive cardiac phenotype starting at 48 hpf. Currently, there is insufficient evidence to support a gene-disease association. Therefore this gene has been given a Red rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.53 | KIF20A | Ivone Leong Gene: kif20a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.52 | KIF20A | Ivone Leong Phenotypes for gene: KIF20A were changed from Cardiomyopathy, familial restrictive, 6, MIM# 619433 to ?Cardiomyopathy, familial restrictive, 6, OMIM:619433 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.51 | KIF20A |
Zornitza Stark gene: KIF20A was added gene: KIF20A was added to Cardiomyopathies - including childhood onset. Sources: Literature Mode of inheritance for gene: KIF20A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF20A were set to 29357359 Phenotypes for gene: KIF20A were set to Cardiomyopathy, familial restrictive, 6, MIM# 619433 Review for gene: KIF20A was set to RED Added comment: Single family reported, two affected sibs, perinatal lethal cardiomyopathy, compound het variants in this gene. Sources: Literature |
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