Paediatric disorders - additional genes
Gene: GDF1Comment 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).Created: 12 Dec 2019, 11:13 a.m. | Last Modified: 12 Dec 2019, 11:13 a.m.
Panel Version: 0.45
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).Created: 26 Nov 2019, 2:46 p.m. | Last Modified: 26 Nov 2019, 2:46 p.m.
Panel Version: 0.40
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).Created: 26 Nov 2019, 2:46 p.m. | Last Modified: 26 Nov 2019, 2:46 p.m.
Panel Version: 0.40
This gene was submitted by Rebecca Whittington on behalf of the South West GLH, for inclusion on the Paediatric disorders panel (https://panelapp.genomicsengland.co.uk/panels/486/).Created: 26 Nov 2019, 2:38 p.m. | Last Modified: 26 Nov 2019, 2:38 p.m.
Panel Version: 0.35
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Congenital heart defects, multiple types, 6; Right atrial isomerism (Ivemark)
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
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
Mode of inheritance for gene: GDF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for gene: GDF1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: gdf1 has been classified as Green List (High Evidence).
Gene: gdf1 has been classified as Green List (High Evidence).
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