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| Laterality disorders and isomerism v0.65 | CFAP53 | Louise Daugherty Phenotypes for gene: CFAP53 were changed from to Heterotaxy, visceral, 6, autosomal recessive, 614779 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.64 | CFAP53 | Louise Daugherty Publications for gene: CFAP53 were set to 26531781; 22577226; 25504577 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.63 | CFAP53 | Louise Daugherty Mode of inheritance for gene: CFAP53 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.51 | CFAP53 | Matthew Edwards reviewed gene: CFAP53: Rating: GREEN; Mode of pathogenicity: None; Publications: 25504577, 22577226, 28621423, 26531781; Phenotypes: OMIM 614779 Heterotaxy, visceral, 6, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.8 | CFAP53 | Louise Daugherty Publications for gene: CFAP53 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.7 | CFAP53 | Louise Daugherty commented on gene: CFAP53: From Panel Familial non syndromic congenital heart disease. 4 Jul 2017, 7:24 a.m. Panel version: 1.8. Review by Helen Brittain (Genomics England Curator). Green List (high evidence). Comment on list classification: Sufficient cases for inclusion regarding laterality phenotype. 4 separate families identified in the three PMIDs with laterality defects (one was an inferred exon 3 deletion) plus evidence of role in motile ciliary organ in zebrafish as supporting evidence. Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal. Phenotypes: Visceral Heterotaxy; Heterotaxy, Visceral, 6, Autosomal. Publications: 26531781, 22577226, 25504577 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.3 | CFAP53 |
Louise Daugherty Source Expert Review Green was added to CFAP53. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Laterality disorders and isomerism v0.2 | CFAP53 | Louise Daugherty reviewed gene: CFAP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.1 | CFAP53 |
Louise Daugherty gene: CFAP53 was added gene: CFAP53 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: CFAP53 was set to |
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