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| DDG2P v3.50 | LRP2 | Achchuthan Shanmugasundram Phenotypes for gene: LRP2 were changed from DONNAI-BARROW SYNDROME, OMIM:222448; INTELLECTUAL DISABILITY, OMIM:616579 to DONNAI-BARROW SYNDROME, OMIM:222448; INTELLECTUAL DISABILITY, OMIM:616579 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.50 | LRP2 | Achchuthan Shanmugasundram Phenotypes for gene: LRP2 were changed from DONNAI-BARROW SYNDROME, OMIM:222448; INTELLECTUAL DISABILITY, OMIM:616579 to DONNAI-BARROW SYNDROME, OMIM:222448; INTELLECTUAL DISABILITY, OMIM:616579 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.50 | LRP2 | Achchuthan Shanmugasundram Phenotypes for gene: LRP2 were changed from INTELLECTUAL DISABILITY; DONNAI-BARROW SYNDROME 222448 to DONNAI-BARROW SYNDROME, OMIM:222448; INTELLECTUAL DISABILITY, OMIM:616579 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.49 | LRP2 | Achchuthan Shanmugasundram Tag watchlist was removed from gene: LRP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.49 | LRP2 |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease DONNAI-BARROW SYNDROME, OMIM:222448 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 19577669;17632512;23992033;29388841). The DDG2P confidence category for the disease INTELLECTUAL DISABILITY, OMIM:616579 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID:23033978).; to: The DDG2P confidence category for the disease DONNAI-BARROW SYNDROME, OMIM:222448 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 19577669;17632512;23992033;29388841). The DDG2P confidence category for the disease INTELLECTUAL DISABILITY, OMIM:616579 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID:23033978). |
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| DDG2P v3.12 | LRP2 | Achchuthan Shanmugasundram reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17632512, 29388841, 23992033, 23033978, 19577669; Phenotypes: DONNAI-BARROW SYNDROME, OMIM:222448, INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | LRP2 | Achchuthan Shanmugasundram Publications for gene: LRP2 were updated from 23033978 to 17632512; 29388841; 23992033; 23033978; 19577669 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.77 | LRP2 | Rebecca Foulger Mode of inheritance for gene: LRP2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.76 | LRP2 | Rebecca Foulger Classified gene: LRP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.76 | LRP2 | Rebecca Foulger Gene: lrp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | LRP2 | Rebecca Foulger edited their review of gene: LRP2: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for DONNAI-BARROW SYNDROME. MOI is biallelic for DONNAI-BARROW SYNDROME and monoallelic for INTELLECTUAL DISABILITY: changed MOI from 'both biallelic and monoallelic' to just 'biallelic' to match biallelic confirmed disorder only.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | LRP2 | Rebecca Foulger commented on gene: LRP2: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | LRP2 | Rebecca Foulger Tag watchlist tag was added to gene: LRP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LRP2 | Rebecca Foulger reviewed gene: LRP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LRP2 | Rebecca Foulger Added phenotypes DONNAI-BARROW SYNDROME 222448 for gene: LRP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LRP2 |
Rebecca Foulger gene: LRP2 was added gene: LRP2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LRP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LRP2 were set to 23033978 Phenotypes for gene: LRP2 were set to INTELLECTUAL DISABILITY |
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