| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Fetal anomalies v2.10 | BHLHA9 | Arina Puzriakova Tag Q4_21_MOI was removed from gene: BHLHA9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v2.10 | BHLHA9 | Arina Puzriakova commented on gene: BHLHA9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v2.9 | BHLHA9 |
Arina Puzriakova Source NHS GMS was added to BHLHA9. Mode of inheritance for gene BHLHA9 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.725 | BHLHA9 |
Eleanor Williams Added comment: Comment on mode of inheritance: Biallelic single nucleotide variants in this gene are associated with Syndactyly, mesoaxial synostotic, with phalangeal reduction (OMIM:609432). Monoallelic duplications of the whole gene are associated with split hand/foot malformations, but it is not clear if they are inherited in an Mendelian manner (see review on the Limb disorders panel https://panelapp.genomicsengland.co.uk/panels/384/gene/BHLHA9/) Therefore the recommendation is that the mode of inheritance should be biallelic only for this gene, with region being eventually represented by a separate entity. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.725 | BHLHA9 | Eleanor Williams Mode of inheritance for gene: BHLHA9 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.724 | BHLHA9 | Eleanor Williams Phenotypes for gene: BHLHA9 were changed from ?Camptosynpolydactyly, complex, OMIM:607539; Syndactyly, mesoaxial synostotic, with phalangeal reduction, OMIM:609432SPLIT HAND AND FOOT MALFORMATION; MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE to ?Camptosynpolydactyly, complex, OMIM:607539; Syndactyly, mesoaxial synostotic, with phalangeal reduction, OMIM:609432; SPLIT HAND AND FOOT MALFORMATION; MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.723 | BHLHA9 | Eleanor Williams Phenotypes for gene: BHLHA9 were changed from SPLIT HAND AND FOOT MALFORMATION; MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE to ?Camptosynpolydactyly, complex, OMIM:607539; Syndactyly, mesoaxial synostotic, with phalangeal reduction, OMIM:609432SPLIT HAND AND FOOT MALFORMATION; MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.722 | BHLHA9 | Eleanor Williams Tag Q4_21_MOI tag was added to gene: BHLHA9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.134 | BHLHA9 | Rebecca Foulger edited their review of gene: BHLHA9: 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 v0.9 | BHLHA9 | Rebecca Foulger commented on gene: BHLHA9: DDG2P rating in original PAGE list: Confirmed for MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE and Confirmed for SPLIT HAND AND FOOT MALFORMATION. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | BHLHA9 | Rebecca Foulger reviewed gene: BHLHA9: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | BHLHA9 | Rebecca Foulger Added phenotypes SPLIT HAND AND FOOT MALFORMATION for gene: BHLHA9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | BHLHA9 |
Rebecca Foulger gene: BHLHA9 was added gene: BHLHA9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BHLHA9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: BHLHA9 were set to MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||