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| Laterality disorders and isomerism v0.18 | CRELD1 | Louise Daugherty Phenotypes for gene: CRELD1 were changed from to Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.17 | CRELD1 | Louise Daugherty edited their review of gene: CRELD1: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.17 | CRELD1 | Louise Daugherty Classified gene: CRELD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.17 | CRELD1 | Louise Daugherty Added comment: Comment on list classification: Changed to Amber until further evidence supplied from Ian Berry ( GMS Respiratory Specialist Test Group webex call 18th Jan 2019) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.17 | CRELD1 | Louise Daugherty Gene: creld1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.16 | CRELD1 | Louise Daugherty Mode of inheritance for gene: CRELD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.15 | CRELD1 | Louise Daugherty Publications for gene: CRELD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.14 | CRELD1 |
Louise Daugherty commented on gene: CRELD1: Review from Helen Brittain (Genomics England Curator) on the Familial non syndromic congenital heart disease panel 4 Jul 2017. Panel version: 1.8. Rating Amber. Comment on list classification: watchlist. 3/50 with AVSD found to have mutations, two isolated partial AVSD and one with heterotaxy. However it has also been postulated as a susceptibility locus. Further evidence of the role in AVSD is needed therefore considered amber. Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown. Phenotypes : Atrioventricular septal defect, partial, with heterotaxy syndrome, 2; Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217; Visceral Heterotaxy Atrioventricular Septal Defect, Susceptibility To, 2. Publictions: 12632326 |
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| Laterality disorders and isomerism v0.3 | CRELD1 |
Louise Daugherty Source Expert Review Green was added to CRELD1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Laterality disorders and isomerism v0.2 | CRELD1 | Louise Daugherty reviewed gene: CRELD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v0.1 | CRELD1 |
Louise Daugherty gene: CRELD1 was added gene: CRELD1 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: CRELD1 was set to |
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