DDG2P
Gene: MYH6
The DDG2P confidence category for the disease ATRIAL SEPTAL DEFECT TYPE 3, OMIM:614089 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: 15735645;29536580;31638415;34481090;29969989;29505555;20656787).Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ATRIAL SEPTAL DEFECT TYPE 3, OMIM:614089
Publications
This gene needs further investigation as to the rating when this panel is updated from Gene2Phenotype DD panel. Q3_22 tags added to flag it only.Created: 5 Aug 2022, 9:59 p.m. | Last Modified: 10 Aug 2022, 10:01 a.m.
Panel Version: 2.77
DD is not part of the phenotype, so the gene should not be in the panel.Created: 28 Dec 2021, 5:47 a.m. | Last Modified: 28 Dec 2021, 5:47 a.m.
Panel Version: 2.55
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder). Therefore the rating is now 'RD and IF' for all three disorders: ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14.Created: 3 Oct 2019, 12:25 p.m. | Last Modified: 3 Oct 2019, 12:27 p.m.
Panel Version: 1.126
Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.Created: 12 Jul 2019, 9:15 p.m. | Last Modified: 12 Jul 2019, 9:15 p.m.
Panel Version: 1.76
Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14.Created: 29 Jan 2019, 12:14 p.m.
Original DDG2P rating: both DD and IF (for all listed disorders). DDG2P mode of pathogenicity for all disorders: uncertainCreated: 19 Nov 2018, 11:30 a.m.
Tag Q3_22_rating was removed from gene: MYH6. Tag Q3_22_expert_review was removed from gene: MYH6.
Source Expert Review Red was added to MYH6. Publications for gene: MYH6 were updated from to 15735645; 29536580; 31638415; 20656787; 29969989; 29505555; 34481090 Rating Changed from Green List (high evidence) to Red List (low evidence)
Tag Q3_22_rating tag was added to gene: MYH6. Tag Q3_22_expert_review tag was added to gene: MYH6.
Phenotypes for gene: MYH6 were changed from CARDIOMYOPATHY DILATED TYPE 1EE 613252; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14 613251; ATRIAL SEPTAL DEFECT TYPE 3 160710 to CARDIOMYOPATHY DILATED TYPE 1EE 613252; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14 613251; ATRIAL SEPTAL DEFECT TYPE 3 614089
Source Expert Review Green was added to MYH6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rebecca Foulger: Original DDG2P rating: both DD
Source Expert Review Amber was added to MYH6. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Added phenotypes CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14 613251 for gene: MYH6
Added phenotypes CARDIOMYOPATHY DILATED TYPE 1EE 613252 for gene: MYH6
gene: MYH6 was added gene: MYH6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYH6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYH6 were set to ATRIAL SEPTAL DEFECT TYPE 3 160710 Mode of pathogenicity for gene: MYH6 was set to Other - please provide details in the comments