| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DDG2P v3.12 | GPX4 | Achchuthan Shanmugasundram reviewed gene: GPX4: Rating: GREEN; Mode of pathogenicity: ; Publications: 24706940; Phenotypes: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, OMIM:250220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EDAR | Achchuthan Shanmugasundram reviewed gene: EDAR: Rating: GREEN; Mode of pathogenicity: ; Publications: 10431241, 16435307, 20979233; Phenotypes: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, OMIM:224900, ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EDA | Achchuthan Shanmugasundram reviewed gene: EDA: Rating: GREEN; Mode of pathogenicity: ; Publications: 9683615, 17066260, 16583127, 19921643, 12949972, 17256800, 19264582, 8696334, 18657636, 9507389, 9856856; Phenotypes: TOOTH AGENESIS SELECTIVE X-LINKED TYPE 1, OMIM:313500, ECTODERMAL DYSPLASIA TYPE 1, OMIM:305100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | EDAR | Achchuthan Shanmugasundram Publications for gene: EDAR were updated from to 10431241; 16435307; 20979233 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | EDA | Achchuthan Shanmugasundram Publications for gene: EDA were updated from 18657636; 17256800; 16583127 to 9683615; 17066260; 16583127; 9856856; 19921643; 12949972; 17256800; 19264582; 8696334; 9507389; 18657636 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.175 | EDAR | Rebecca Foulger Phenotypes for gene: EDAR were changed from Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive to ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.174 | EDAR | Rebecca Foulger Mode of inheritance for gene: EDAR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.90 | EDAR | Rebecca Foulger Added comment: Comment on mode of inheritance: At the time of curation, no MOI is listed in DD-G2P for EDAR. Note that in OMIM, Ectodermal dysplasia is associated with both recessive (MIM:224900) and dominant (MIM:129490) inheritance. However, have set MOI to 'biallelic' to match the current DD-G2P disorder name (Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.90 | EDAR | Rebecca Foulger Mode of inheritance for gene: EDAR was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EDAR | Rebecca Foulger reviewed gene: EDAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EDA | Rebecca Foulger reviewed gene: EDA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GPX4 |
Rebecca Foulger gene: GPX4 was added gene: GPX4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GPX4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPX4 were set to 24706940 Phenotypes for gene: GPX4 were set to SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE 250220 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | EDAR |
Rebecca Foulger gene: EDAR was added gene: EDAR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EDAR was set to Phenotypes for gene: EDAR were set to Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | EDA |
Rebecca Foulger Added phenotypes TOOTH AGENESIS SELECTIVE X-LINKED TYPE 1 313500 for gene: EDA Publications for gene EDA were changed from 8696334; 12949972; 9683615; 19264582; 19921643; 9507389; 9856856; 17066260 to 18657636; 17256800; 16583127 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | EDA |
Rebecca Foulger gene: EDA was added gene: EDA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: EDA were set to 8696334; 12949972; 9683615; 19264582; 19921643; 9507389; 9856856; 17066260 Phenotypes for gene: EDA were set to ECTODERMAL DYSPLASIA TYPE 1 305100 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||