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| DDG2P v3.12 | RIN2 | Achchuthan Shanmugasundram reviewed gene: RIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19631308; Phenotypes: MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRIN2D | Achchuthan Shanmugasundram reviewed gene: GRIN2D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27616483; Phenotypes: Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRIN2B | Achchuthan Shanmugasundram reviewed gene: GRIN2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 24272827, 31085877, 23934111, 28377535, 23033978, 20890276, 23160955, 27605359, 23718928, 35393335, 30151416; Phenotypes: EPILEPTIC ENCEPHALOPATHY, INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, OMIM:613970; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRIN2A | Achchuthan Shanmugasundram reviewed gene: GRIN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 23033978, 35983985, 20890276, 23933818; Phenotypes: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:245570, Autosomal recessive GRIN2A-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RIN2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RIN2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | GRIN2D |
Achchuthan Shanmugasundram Source Expert Review Green was added to GRIN2D. Mode of pathogenicity for gene GRIN2D was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | GRIN2B | Achchuthan Shanmugasundram Publications for gene: GRIN2B were updated from 23934111 to 24272827; 31085877; 23934111; 28377535; 23033978; 20890276; 23160955; 27605359; 23718928; 35393335; 30151416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GRIN2A | Achchuthan Shanmugasundram Publications for gene: GRIN2A were updated from 23933818 to 23033978; 35983985; 20890276; 23933818 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | RIN2 | Rebecca Foulger reviewed gene: RIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GRIN2D | Rebecca Foulger reviewed gene: GRIN2D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GRIN2B | Rebecca Foulger reviewed gene: GRIN2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GRIN2A | Rebecca Foulger reviewed gene: GRIN2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | RIN2 |
Rebecca Foulger gene: RIN2 was added gene: RIN2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RIN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RIN2 were set to 19631308 Phenotypes for gene: RIN2 were set to MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS |
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| DDG2P v0.1 | GRIN2D |
Rebecca Foulger gene: GRIN2D was added gene: GRIN2D was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GRIN2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GRIN2D were set to 27616483 Phenotypes for gene: GRIN2D were set to Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers Mode of pathogenicity for gene: GRIN2D was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GRIN2B |
Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY for gene: GRIN2B Publications for gene GRIN2B were changed from 20890276; 23160955; 23033978 to 23934111 |
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| DDG2P v0.1 | GRIN2B |
Rebecca Foulger Added phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 613970 for gene: GRIN2B Publications for gene GRIN2B were changed from 23160955 to 20890276; 23160955; 23033978 |
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| DDG2P v0.1 | GRIN2B |
Rebecca Foulger gene: GRIN2B was added gene: GRIN2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GRIN2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GRIN2B were set to 23160955 Phenotypes for gene: GRIN2B were set to AUTISM 209850 |
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| DDG2P v0.1 | GRIN2A |
Rebecca Foulger Added phenotypes LANDAU-KLEFFNER SYNDROME 245570 for gene: GRIN2A Publications for gene GRIN2A were changed from 20890276; 23033978 to 23933818 |
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| DDG2P v0.1 | GRIN2A |
Rebecca Foulger gene: GRIN2A was added gene: GRIN2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GRIN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GRIN2A were set to 20890276; 23033978 Phenotypes for gene: GRIN2A were set to EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS 613971 |
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