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| Fetal anomalies v0.311 | HCFC1 | Rebecca Foulger edited their review of gene: HCFC1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Table 4).; Changed rating: GREEN; Changed publications: 20301503 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.310 | HCFC1 |
Rebecca Foulger Source Expert Review Green was added to HCFC1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.161 | CFC1 | Rebecca Foulger edited their review of gene: CFC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.135 | HCFC1 |
Rebecca Foulger Source Expert Review Red was added to HCFC1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.134 | HCFC1 | Rebecca Foulger edited their review of gene: HCFC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HCFC1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.92 | MITF | Rebecca Foulger commented on gene: MITF: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): Yes [CFC1 should be on the Fetal anomalies panel]. COMMAD would present prenatally as microphalmia and congenital cataracts would be seen on ultrasound scan as may be the macrocephaly and frontal bossing. The parents would likely exhibit the Tietz albinism deafness/Waardenburg phenotypes so would be able to interpret variants for this condition. However, some fetusses may incidentally be identified to have Tietz albinism deafness/Waardenburg phenotypes, but this may also be informative to parents, although more difficult information for them to receive. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.68 | CFC1 | Rebecca Foulger Publications for gene: CFC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.67 | CFC1 | Rebecca Foulger Phenotypes for gene: CFC1 were changed from CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS to CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS; Heterotaxy, visceral, 2, autosomal, 605376 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.66 | CFC1 | Rebecca Foulger commented on gene: CFC1: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019) to support Green rating: Yes [CFC1 should be on the Fetal anomalies panel]. The phenotype would easily be seen on ultrasound scan and such a result would give the parents good information about the pregnancy and also help allow variant interpretation. It would let them know that the intellect is likely normal and they can then concentrate on the particular cardiac problem only. If incidentally identified, ultrasound scans can be offered in pregnancy. Also, one of the patients [in PMID:11062482] had an absent corpus callosum, although it may have been an incidental finding. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.66 | CFC1 | Rebecca Foulger commented on gene: CFC1: Further information on evidence for Green rating: Reviewed as Green on the 'Familial non syndromic congenital heart disease' panel in relation to heterotaxy phenotype. 3 cases in OMIM cases to support causation of 'Heterotaxy, visceral, 2, autosomal, 605376' although incomplete penetrance (with phenotypically-normal parent carrying the variant) seen in two cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.16 | CFC1 | Rebecca Foulger Classified gene: CFC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.16 | CFC1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.16 | CFC1 | Rebecca Foulger Gene: cfc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HCFC1 | Rebecca Foulger commented on gene: HCFC1: DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION, X-LINKED 3 and Confirmed for COBALAMIN DISORDER. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CFC1 | Rebecca Foulger reviewed gene: CFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | HCFC1 | Rebecca Foulger reviewed gene: HCFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | HCFC1 | Rebecca Foulger Added phenotypes COBALAMIN DISORDER for gene: HCFC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | HCFC1 |
Rebecca Foulger gene: HCFC1 was added gene: HCFC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HCFC1 were set to MENTAL RETARDATION, X-LINKED 3 |
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| Fetal anomalies v0.1 | CFC1 |
Rebecca Foulger gene: CFC1 was added gene: CFC1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CFC1 were set to CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS |
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