DDG2P
Gene: SMAD4
The DDG2P confidence category for the disease Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively.
The DDG2P confidence category for the disease MYHRE SYNDROME, OMIM:139210 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 6 Oct 2023, 5:21 p.m.
Panel Version: 3.29
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050; MYHRE SYNDROME, OMIM:139210
Added 'watchlist' tag to highlight different G2P ratings for different disorders.Created: 28 Nov 2019, 9:14 a.m. | Last Modified: 28 Nov 2019, 9:14 a.m.
Panel Version: 1.171
September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for JUVENILE POLYPOSIS SYNDROME; JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME.Created: 8 Oct 2019, 3:24 p.m. | Last Modified: 8 Oct 2019, 3:24 p.m.
Panel Version: 1.131
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. SMAD4 also rated 'confirmed' for MYHRE SYNDROME.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 'both DD and IF' for JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JUVENILE POLYPOSIS SYNDROME. SMAD4 also rated 'confirmed' for MYHRE SYNDROME.Created: 29 Jan 2019, 12:14 p.m.
Multiple MOPs in DD-G2P download: activating, loss of function. Multiple ratings in DD-G2P download: Rated confirmed for MYHRE SYNDROME. Rated both DD and IF for JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME 175050 and JUVENILE POLYPOSIS SYNDROME 174900.Created: 19 Nov 2018, 11:30 a.m.
Phenotypes for gene: SMAD4 were changed from Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050; MYHRE SYNDROME, OMIM:139210 to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050; MYHRE SYNDROME, OMIM:139210
Phenotypes for gene: SMAD4 were changed from JUVENILE POLYPOSIS SYNDROME 174900; MYHRE SYNDROME 139210; JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME 175050 to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050; MYHRE SYNDROME, OMIM:139210
Tag watchlist was removed from gene: SMAD4.
Tag watchlist tag was added to gene: SMAD4.
Phenotypes for gene: SMAD4 were changed from JUVENILE POLYPOSIS SYNDROME 174900; MYHRE SYNDROME; JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME 175050 to JUVENILE POLYPOSIS SYNDROME 174900; MYHRE SYNDROME 139210; JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME 175050
Source Expert Review Green was added to SMAD4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rebecca Foulger: Multiple MOPs in DD-G2P downlo
Source Expert Review Amber was added to SMAD4. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Tag watchlist was removed from gene: SMAD4.
Tag watchlist tag was added to gene: SMAD4.
Added phenotypes JUVENILE POLYPOSIS SYNDROME 174900 for gene: SMAD4
Added phenotypes JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME 175050 for gene: SMAD4
gene: SMAD4 was added gene: SMAD4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMAD4 were set to MYHRE SYNDROME