| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Fetal anomalies v1.662 | RFWD3 | Arina Puzriakova Classified gene: RFWD3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.662 | RFWD3 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). To date, only a single patient has been reported in PMID: 28691929 - rating Red awaiting further cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.662 | RFWD3 | Arina Puzriakova Gene: rfwd3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.661 | RFWD3 | Arina Puzriakova Publications for gene: RFWD3 were set to PMID: 2869192 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.660 | RFWD3 | Arina Puzriakova Phenotypes for gene: RFWD3 were changed from Fanconi anaemia to ?Fanconi anemia, complementation group W, OMIM:617784 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.648 | RFWD3 |
Rhiannon Mellis gene: RFWD3 was added gene: RFWD3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFWD3 were set to PMID: 2869192 Phenotypes for gene: RFWD3 were set to Fanconi anaemia Review for gene: RFWD3 was set to RED Added comment: Fetally relevant phenotype but only one case reported in literature so far so await further cases. (In the single reported case, the child had: intrauterine growth retardation, duodenal atresia, radial ray malformations, bilateral absent thumbs, small midface, ventriculomegaly, hypoplastic left kidney, and polysplenia. Brain MRI showed rarefied periventricular white matter, narrow corpus callosum, abnormal pituitary, and Chiari malformation type I) Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||