Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Paediatric disorders - additional genes v1.106 | GDF1 | Arina Puzriakova Phenotypes for gene: GDF1 were changed from Right atrial isomerism (Ivemark), 208530; Congenital heart defects, multiple types, 6, 613854 to Congenital heart defects, multiple types, 6, OMIM:613854; Right atrial isomerism (Ivemark), OMIM:208530 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v0.46 | GDF1 | Rebecca Foulger Phenotypes for gene: GDF1 were changed from Right atrial isomerism (Ivemark); Congenital heart defects, multiple types, 6 to Right atrial isomerism (Ivemark), 208530; Congenital heart defects, multiple types, 6, 613854 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v0.45 | GDF1 | Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from MONOALLELIC to BOTH monoallelic and biallelic, to match suggested MOI in review, and MOI on 'Laterality disorders and isomerism' panel, version 1.0 (panel 549). GDF1 has AD inheritance for Congenital heart defects, multiple types, 6 (MIM:613854) and AR inheritance for Right atrial isomerism (Ivemark) (MIM:208530). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v0.45 | GDF1 | Rebecca Foulger Mode of inheritance for gene: GDF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v0.41 | GDF1 | Ellen McDonagh Mode of inheritance for gene: GDF1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v0.40 | GDF1 | Ellen McDonagh Classified gene: GDF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v0.40 | GDF1 | Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green. This gene is Green on the Familial non syndromic congenital heart disease (panel 212, Version 1.49). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v0.40 | GDF1 | Ellen McDonagh Gene: gdf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v0.40 | GDF1 | Ellen McDonagh Classified gene: GDF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v0.40 | GDF1 | Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green. This gene is Green on the Familial non syndromic congenital heart disease (panel 212, Version 1.49). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v0.40 | GDF1 | Ellen McDonagh Gene: gdf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v0.35 | GDF1 | Ellen McDonagh reviewed gene: GDF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital heart defects, multiple types, 6, Right atrial isomerism (Ivemark) ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v0.34 | GDF1 |
Ellen McDonagh gene: GDF1 was added gene: GDF1 was added to Paediatric disorders - additional genes. Sources: South West GLH Mode of inheritance for gene: GDF1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GDF1 were set to Right atrial isomerism (Ivemark); Congenital heart defects, multiple types, 6 |