Activity
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| Laterality disorders and isomerism v0.123 | ZIC3 | Louise Daugherty Phenotypes for gene: ZIC3 were changed from to Heterotaxy, visceral, 1, X-linked, 306955; Congenital heart defects, nonsyndromic, 1, X-linked | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.122 | ZIC3 | Louise Daugherty Mode of inheritance for gene: ZIC3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.51 | ZIC3 | Matthew Edwards reviewed gene: ZIC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM 306955 Heterotaxy, visceral, 1, X-linked, Congenital heart defects, nonsyndromic, 1, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.7 | ZIC3 | Louise Daugherty Publications for gene: ZIC3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.6 | ZIC3 | Louise Daugherty commented on gene: ZIC3: Review on panel: Familial non syndromic congenital heart disease. 4 Jul 2017, 7:24 a.m. Panel version: 1.8. Helen Brittain (Genomics England Curator). Green List (high evidence). Review: >5 families with situs abnormalities in listed PMID. Evidence for causation of heterotaxy. Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females. Phenotypes: x-linked Heterotaxy syndrome, Visceral, 1; Heterotaxy, visceral, 1, X-linked 306955; Visceral Heterotaxy; Heterotaxy, Visceral, 1, X-Linked. Publications: 9354794 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.3 | ZIC3 |
Louise Daugherty Source Expert Review Green was added to ZIC3. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Laterality disorders and isomerism v0.2 | ZIC3 | Louise Daugherty reviewed gene: ZIC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.1 | ZIC3 |
Louise Daugherty gene: ZIC3 was added gene: ZIC3 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: ZIC3 was set to |
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