DDG2P
Gene: AR
The GMS review tags have now been removed as this panel has been updated with the recent version of the DD panel (July 2023) from Gene2Phenotype database.Created: 6 Oct 2023, 5:27 p.m. | Last Modified: 6 Oct 2023, 5:27 p.m.
Panel Version: 3.31
The DDG2P confidence category for the disease ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, absent gene product and potential IF respectively.
The DDG2P confidence category for the disease SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, altered gene product structure and potential IF respectively.Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 6 Oct 2023, 5:24 p.m.
Panel Version: 3.30
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200; ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068
This panel reflects the Developmental Disorders panel in Gene2Phenotype. However, it will be reviewed after the next update as to whether it is appropriate for it to stay green for the Genomics England analysis pipeline. Adding a GMS review tag so that is is not missed.Created: 3 Aug 2022, 5:11 p.m. | Last Modified: 3 Aug 2022, 5:11 p.m.
Panel Version: 2.76
Pathogenic point variants in this gene result in AIS, while repeat expansion in adult-onset spinal muscular atrophy. None of this phenotypes is associated with DD. Also red on ID panelApp list.Created: 24 Dec 2021, 12:42 p.m. | Last Modified: 24 Dec 2021, 12:42 p.m.
Panel Version: 2.55
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Spinal and bulbar muscular atrophy; Androgen insensitivity syndrome
September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for ANDROGEN INSENSITIVITY SYNDROME; SPINAL AND BULBAR MUSCULAR ATROPHY.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.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 SPINAL AND BULBAR MUSCULAR ATROPHY; ANDROGEN INSENSITIVITY SYNDROME.Created: 29 Jan 2019, 12:14 p.m.
Original DDG2P rating: both DD and IF (for all listed disorders). Multiple MOPs in DD-G2P download: dominant negative, loss of functionCreated: 19 Nov 2018, 11:29 a.m.
Tag Q3_22_rating was removed from gene: AR. Tag Q3_22_expert_review was removed from gene: AR.
Phenotypes for gene: AR were changed from SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200; ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068 to SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200; ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068
Phenotypes for gene: AR were changed from SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200; ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068 to SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200; ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068
Phenotypes for gene: AR were changed from ANDROGEN INSENSITIVITY SYNDROME 300068; SPINAL AND BULBAR MUSCULAR ATROPHY 313200 to SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200; ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068
Tag Q3_22_rating tag was added to gene: AR. Tag Q3_22_expert_review tag was added to gene: AR.
Source Expert Review Green was added to AR. 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 AR. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Added phenotypes ANDROGEN INSENSITIVITY SYNDROME 300068 for gene: AR
gene: AR was added gene: AR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AR were set to SPINAL AND BULBAR MUSCULAR ATROPHY 313200