Activity
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298 actions
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| DDG2P v0.1 | PPP1CB |
Rebecca Foulger gene: PPP1CB was added gene: PPP1CB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP1CB were set to 27264673 Phenotypes for gene: PPP1CB were set to Rasopathy with developmental delay, short stature and sparse slow-growing hair Mode of pathogenicity for gene: PPP1CB was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PPA2 |
Rebecca Foulger gene: PPA2 was added gene: PPA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPA2 were set to 27523598; 27523597 Phenotypes for gene: PPA2 were set to Sudden arrhythmic cardiac death after infectious or alcohol trigger Mode of pathogenicity for gene: PPA2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | POT1 |
Rebecca Foulger gene: POT1 was added gene: POT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: POT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POT1 were set to 27013236 Phenotypes for gene: POT1 were set to Coats Plus Mode of pathogenicity for gene: POT1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | POMP |
Rebecca Foulger gene: POMP was added gene: POMP was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: POMP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMP were set to 20226437 Phenotypes for gene: POMP were set to KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA 601952 Mode of pathogenicity for gene: POMP was set to Other - please provide details in the comments |
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| DDG2P v0.1 | POLG |
Rebecca Foulger gene: POLG was added gene: POLG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLG were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 4A 607459 Mode of pathogenicity for gene: POLG was set to Other - please provide details in the comments |
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| DDG2P v0.1 | POLD1 |
Rebecca Foulger gene: POLD1 was added gene: POLD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POLD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POLD1 were set to 23770608 Phenotypes for gene: POLD1 were set to SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM Mode of pathogenicity for gene: POLD1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PNPLA1 |
Rebecca Foulger gene: PNPLA1 was added gene: PNPLA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPLA1 were set to CONGENITAL ICHTHYOSIS Mode of pathogenicity for gene: PNPLA1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PLXND1 |
Rebecca Foulger gene: PLXND1 was added gene: PLXND1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PLXND1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PLXND1 were set to MOEBIUS SYNDROME Mode of pathogenicity for gene: PLXND1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PLCB4 |
Rebecca Foulger gene: PLCB4 was added gene: PLCB4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PLCB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PLCB4 were set to AURICULOCONDYLAR SYNDROME 602483 Mode of pathogenicity for gene: PLCB4 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PIP5K1C |
Rebecca Foulger gene: PIP5K1C was added gene: PIP5K1C was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PIP5K1C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIP5K1C were set to LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3 611369 Mode of pathogenicity for gene: PIP5K1C was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PIK3R2 |
Rebecca Foulger gene: PIK3R2 was added gene: PIK3R2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PIK3R2 were set to 26860062; 22729224 Phenotypes for gene: PIK3R2 were set to MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 603387 Mode of pathogenicity for gene: PIK3R2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PIK3CA |
Rebecca Foulger gene: PIK3CA was added gene: PIK3CA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PIK3CA were set to 22658544 Phenotypes for gene: PIK3CA were set to CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI 612918 Mode of pathogenicity for gene: PIK3CA was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PIGY |
Rebecca Foulger gene: PIGY was added gene: PIGY was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PIGY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGY were set to 26293662 Phenotypes for gene: PIGY were set to Glycosylphosphatidylinositol deficiency Mode of pathogenicity for gene: PIGY was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PIGW |
Rebecca Foulger gene: PIGW was added gene: PIGW was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PIGW was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGW were set to 24367057 Phenotypes for gene: PIGW were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5 616025 Mode of pathogenicity for gene: PIGW was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PIGV |
Rebecca Foulger gene: PIGV was added gene: PIGV was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGV were set to 17351347; 20802478 Phenotypes for gene: PIGV were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION 239300 Mode of pathogenicity for gene: PIGV was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PIGT |
Rebecca Foulger gene: PIGT was added gene: PIGT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIGT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGT were set to 23636107; 24906948 Phenotypes for gene: PIGT were set to MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 615398 Mode of pathogenicity for gene: PIGT was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PIGN |
Rebecca Foulger gene: PIGN was added gene: PIGN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGN were set to 21493957 Phenotypes for gene: PIGN were set to MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 614080 Mode of pathogenicity for gene: PIGN was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PIGM |
Rebecca Foulger gene: PIGM was added gene: PIGM was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PIGM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGM were set to 16767100 Phenotypes for gene: PIGM were set to Glycosylphosphatidylinositol deficiency Mode of pathogenicity for gene: PIGM was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PHOX2B |
Rebecca Foulger gene: PHOX2B was added gene: PHOX2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PHOX2B were set to 12640453 Phenotypes for gene: PHOX2B were set to CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE 209880 Mode of pathogenicity for gene: PHOX2B was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PHC1 |
Rebecca Foulger gene: PHC1 was added gene: PHC1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PHC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHC1 were set to 23418308 Phenotypes for gene: PHC1 were set to PRIMARY MICROCEPHALY 615414 Mode of pathogenicity for gene: PHC1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PGAP2 |
Rebecca Foulger gene: PGAP2 was added gene: PGAP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PGAP2 were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: PGAP2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PECR |
Rebecca Foulger gene: PECR was added gene: PECR was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PECR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PECR were set to 21937992 Phenotypes for gene: PECR were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: PECR was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PDSS1 |
Rebecca Foulger gene: PDSS1 was added gene: PDSS1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDSS1 were set to 17332895 Phenotypes for gene: PDSS1 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 2 614651 Mode of pathogenicity for gene: PDSS1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PDGFRB |
Rebecca Foulger gene: PDGFRB was added gene: PDGFRB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PDGFRB were set to 23731542 Phenotypes for gene: PDGFRB were set to FAMILIAL INFANTILE MYOFIBROMATOSIS 228550 Mode of pathogenicity for gene: PDGFRB was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PDE4D |
Rebecca Foulger gene: PDE4D was added gene: PDE4D was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PDE4D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PDE4D were set to 22464252; 22464250; 23033274 Phenotypes for gene: PDE4D were set to ACRODYSOSTOSIS 101800 Mode of pathogenicity for gene: PDE4D was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PDE10A |
Rebecca Foulger gene: PDE10A was added gene: PDE10A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PDE10A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PDE10A were set to 27058447 Phenotypes for gene: PDE10A were set to Childhood-Onset Chorea with Bilateral Striatal Lesions Mode of pathogenicity for gene: PDE10A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PCGF2 |
Rebecca Foulger gene: PCGF2 was added gene: PCGF2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PCGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PCGF2 were set to INTELLECTUAL DUSBILITY Mode of pathogenicity for gene: PCGF2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PARP1 |
Rebecca Foulger gene: PARP1 was added gene: PARP1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PARP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PARP1 were set to 21937992 Phenotypes for gene: PARP1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: PARP1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PACS2 |
Rebecca Foulger gene: PACS2 was added gene: PACS2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PACS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PACS2 were set to 28867141 Phenotypes for gene: PACS2 were set to Unspecified Neurodevelopmental Disorder Mode of pathogenicity for gene: PACS2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PACS1 |
Rebecca Foulger gene: PACS1 was added gene: PACS1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PACS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PACS1 were set to 23159249 Phenotypes for gene: PACS1 were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: PACS1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | P4HB |
Rebecca Foulger gene: P4HB was added gene: P4HB was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: P4HB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: P4HB were set to 25683117 Phenotypes for gene: P4HB were set to COLE-CARPENTER SYNDROME 112240 Mode of pathogenicity for gene: P4HB was set to Other - please provide details in the comments |
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| DDG2P v0.1 | OSGEP |
Rebecca Foulger gene: OSGEP was added gene: OSGEP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OSGEP were set to 28805828 Phenotypes for gene: OSGEP were set to Nephrotic syndrome with primary microcephaly Mode of pathogenicity for gene: OSGEP was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NUP62 |
Rebecca Foulger gene: NUP62 was added gene: NUP62 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP62 were set to 16786527 Phenotypes for gene: NUP62 were set to INFANTILE STRIATONIGRAL DEGENERATION 271930 Mode of pathogenicity for gene: NUP62 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NTRK2 |
Rebecca Foulger gene: NTRK2 was added gene: NTRK2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NTRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NTRK2 were set to 29100083 Phenotypes for gene: NTRK2 were set to Epilepsy and intellectual disability Mode of pathogenicity for gene: NTRK2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NSUN2 |
Rebecca Foulger gene: NSUN2 was added gene: NSUN2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NSUN2 were set to 22541562; 22577224; 22541559; 21063731 Phenotypes for gene: NSUN2 were set to AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5 611091 Mode of pathogenicity for gene: NSUN2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NSMCE3 |
Rebecca Foulger gene: NSMCE3 was added gene: NSMCE3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NSMCE3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NSMCE3 were set to DISTINCT DNA BREAKAGE SYNDROME Mode of pathogenicity for gene: NSMCE3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NRAS |
Rebecca Foulger gene: NRAS was added gene: NRAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NRAS were set to 19966803 Phenotypes for gene: NRAS were set to NOONAN SYNDROME TYPE 6 613224 Mode of pathogenicity for gene: NRAS was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NR5A1 |
Rebecca Foulger gene: NR5A1 was added gene: NR5A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NR5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NR5A1 were set to 46XY SEX REVERSAL 3 612965 Mode of pathogenicity for gene: NR5A1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NR1I3 |
Rebecca Foulger gene: NR1I3 was added gene: NR1I3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NR1I3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NR1I3 were set to EHMT1-LIKE INTELLECTUAL DISABILITY Mode of pathogenicity for gene: NR1I3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NOVA2 |
Rebecca Foulger gene: NOVA2 was added gene: NOVA2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NOVA2 were set to Intellectual disability with ataxia/spasticity |
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| DDG2P v0.1 | NOTCH3 |
Rebecca Foulger gene: NOTCH3 was added gene: NOTCH3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NOTCH3 were set to 23731542 Phenotypes for gene: NOTCH3 were set to INFANTILE MYOFIBROMATOSIS 615293 Mode of pathogenicity for gene: NOTCH3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NOTCH2 |
Rebecca Foulger gene: NOTCH2 was added gene: NOTCH2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NOTCH2 were set to 21712856; 21378989; 21378985 Phenotypes for gene: NOTCH2 were set to HAJDU-CHENEY SYNDROME 102500 Mode of pathogenicity for gene: NOTCH2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NOP10 |
Rebecca Foulger gene: NOP10 was added gene: NOP10 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NOP10 were set to 17507419 Phenotypes for gene: NOP10 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 224230 Mode of pathogenicity for gene: NOP10 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NHP2 |
Rebecca Foulger gene: NHP2 was added gene: NHP2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NHP2 were set to 18523010 Phenotypes for gene: NHP2 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 613987 Mode of pathogenicity for gene: NHP2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NFU1 |
Rebecca Foulger gene: NFU1 was added gene: NFU1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFU1 were set to 22077971; 11156534 Phenotypes for gene: NFU1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 605711 Mode of pathogenicity for gene: NFU1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NEDD4L |
Rebecca Foulger gene: NEDD4L was added gene: NEDD4L was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NEDD4L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NEDD4L were set to 23934111; 28515470; 27694961 Phenotypes for gene: NEDD4L were set to Periventricular nodular heterotopia with ID, cleft palate and 2.3 toe syndactyly Mode of pathogenicity for gene: NEDD4L was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NDUFV1 |
Rebecca Foulger gene: NDUFV1 was added gene: NDUFV1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFV1 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY 252010 Mode of pathogenicity for gene: NDUFV1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NDUFS8 |
Rebecca Foulger gene: NDUFS8 was added gene: NDUFS8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS8 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010 Mode of pathogenicity for gene: NDUFS8 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NDUFA9 |
Rebecca Foulger gene: NDUFA9 was added gene: NDUFA9 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NDUFA9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA9 were set to LEIGH SYNDROME 256000 Mode of pathogenicity for gene: NDUFA9 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NDUFA10 |
Rebecca Foulger gene: NDUFA10 was added gene: NDUFA10 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA10 were set to LEIGH SYNDROME DUP 256000 Mode of pathogenicity for gene: NDUFA10 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NDST1 |
Rebecca Foulger gene: NDST1 was added gene: NDST1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NDST1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDST1 were set to 21937992 Phenotypes for gene: NDST1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: NDST1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NACC1 |
Rebecca Foulger gene: NACC1 was added gene: NACC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NACC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NACC1 were set to 28132692 Phenotypes for gene: NACC1 were set to Infantile Epilepsy, Cataracts, and Profound Developmental Delay Mode of pathogenicity for gene: NACC1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MYH6 |
Rebecca Foulger gene: MYH6 was added gene: MYH6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYH6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYH6 were set to ATRIAL SEPTAL DEFECT TYPE 3 160710 Mode of pathogenicity for gene: MYH6 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MYH3 |
Rebecca Foulger gene: MYH3 was added gene: MYH3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYH3 were set to 16642020; 18695058 Phenotypes for gene: MYH3 were set to DISTAL ARTHROGRYPOSIS TYPE 2B 601680 Mode of pathogenicity for gene: MYH3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MTOR |
Rebecca Foulger gene: MTOR was added gene: MTOR was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MTOR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MTOR were set to 23934111 Phenotypes for gene: MTOR were set to EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: MTOR was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MTMR14 |
Rebecca Foulger gene: MTMR14 was added gene: MTMR14 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MTMR14 was set to Phenotypes for gene: MTMR14 were set to CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF 160150 Mode of pathogenicity for gene: MTMR14 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MSI1 |
Rebecca Foulger gene: MSI1 was added gene: MSI1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MSI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MSI1 were set to 28572454 Phenotypes for gene: MSI1 were set to MSI1-associated Microcephaly Mode of pathogenicity for gene: MSI1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MRPS22 |
Rebecca Foulger gene: MRPS22 was added gene: MRPS22 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS22 were set to 17873122 Phenotypes for gene: MRPS22 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 611719 Mode of pathogenicity for gene: MRPS22 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MOGS |
Rebecca Foulger gene: MOGS was added gene: MOGS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MOGS were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379 Mode of pathogenicity for gene: MOGS was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MMP14 |
Rebecca Foulger gene: MMP14 was added gene: MMP14 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MMP14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMP14 were set to 22922033 Phenotypes for gene: MMP14 were set to WINCHESTER SYNDROME Mode of pathogenicity for gene: MMP14 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MMP13 |
Rebecca Foulger gene: MMP13 was added gene: MMP13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MMP13 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MMP13 were set to 8412645; 19615667 Phenotypes for gene: MMP13 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE 602111 Mode of pathogenicity for gene: MMP13 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MIR184 |
Rebecca Foulger gene: MIR184 was added gene: MIR184 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MIR184 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MIR184 were set to 21996275 Phenotypes for gene: MIR184 were set to EDICT SYNDROME 614303; KERATOCONUS WITH CATARACT Mode of pathogenicity for gene: MIR184 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MFSD2A |
Rebecca Foulger gene: MFSD2A was added gene: MFSD2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MFSD2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MFSD2A were set to 26005865 Phenotypes for gene: MFSD2A were set to MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 616486 Mode of pathogenicity for gene: MFSD2A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MED23 |
Rebecca Foulger gene: MED23 was added gene: MED23 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MED23 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MED23 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 18 614249 Mode of pathogenicity for gene: MED23 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MED17 |
Rebecca Foulger gene: MED17 was added gene: MED17 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MED17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED17 were set to 20950787 Phenotypes for gene: MED17 were set to MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY 613668 Mode of pathogenicity for gene: MED17 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MED12 |
Rebecca Foulger gene: MED12 was added gene: MED12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MED12 were set to 17334363 Phenotypes for gene: MED12 were set to OPITZ-KAVEGGIA SYNDROME 305450 Mode of pathogenicity for gene: MED12 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MECOM |
Rebecca Foulger gene: MECOM was added gene: MECOM was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MECOM were set to 26581901 Phenotypes for gene: MECOM were set to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia Mode of pathogenicity for gene: MECOM was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MATN3 |
Rebecca Foulger gene: MATN3 was added gene: MATN3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MATN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MATN3 were set to 15948199; 11479597; 13849708; 14729835 Phenotypes for gene: MATN3 were set to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5 607078 Mode of pathogenicity for gene: MATN3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MAPRE2 |
Rebecca Foulger gene: MAPRE2 was added gene: MAPRE2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAPRE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAPRE2 were set to 26637975 Phenotypes for gene: MAPRE2 were set to Circumferential Skin Creases Kunze Type Mode of pathogenicity for gene: MAPRE2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MAP3K7 |
Rebecca Foulger gene: MAP3K7 was added gene: MAP3K7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MAP3K7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAP3K7 were set to 27426734 Phenotypes for gene: MAP3K7 were set to Cardiospondylocarpofacial syndrome Mode of pathogenicity for gene: MAP3K7 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MAP2K2 |
Rebecca Foulger gene: MAP2K2 was added gene: MAP2K2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MAP2K2 were set to CARDIOFACIOCUTANEOUS SYNDROME 115150 Mode of pathogenicity for gene: MAP2K2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MAP2K1 |
Rebecca Foulger gene: MAP2K1 was added gene: MAP2K1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MAP2K1 were set to CARDIOFACIOCUTANEOUS SYNDROME 115150 Mode of pathogenicity for gene: MAP2K1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MAN1B1 |
Rebecca Foulger gene: MAN1B1 was added gene: MAN1B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAN1B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN1B1 were set to 26577042; 24348268; 21763484; 24566669; 26279649; 21937992 Phenotypes for gene: MAN1B1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: MAN1B1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MAF |
Rebecca Foulger gene: MAF was added gene: MAF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MAF were set to CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES Mode of pathogenicity for gene: MAF was set to Other - please provide details in the comments |
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| DDG2P v0.1 | LONP1 |
Rebecca Foulger gene: LONP1 was added gene: LONP1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LONP1 were set to 25574826 Phenotypes for gene: LONP1 were set to CODAS SYNDROME 600373 Mode of pathogenicity for gene: LONP1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | LIPT2 |
Rebecca Foulger gene: LIPT2 was added gene: LIPT2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LIPT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPT2 were set to 28757203 Phenotypes for gene: LIPT2 were set to Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy Mode of pathogenicity for gene: LIPT2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | LIPT1 |
Rebecca Foulger gene: LIPT1 was added gene: LIPT1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPT1 were set to 24341803; 27247813; 24256811 Phenotypes for gene: LIPT1 were set to Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. Mode of pathogenicity for gene: LIPT1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | LIAS |
Rebecca Foulger gene: LIAS was added gene: LIAS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIAS were set to 22152680; 26108146 Phenotypes for gene: LIAS were set to Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation Mode of pathogenicity for gene: LIAS was set to Other - please provide details in the comments |
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| DDG2P v0.1 | LFNG |
Rebecca Foulger gene: LFNG was added gene: LFNG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LFNG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LFNG were set to 16385447 Phenotypes for gene: LFNG were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 3 609813 Mode of pathogenicity for gene: LFNG was set to Other - please provide details in the comments |
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| DDG2P v0.1 | LDB3 |
Rebecca Foulger gene: LDB3 was added gene: LDB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LDB3 were set to LEFT VENTRICULAR NON-COMPACTION TYPE 3 601493 Mode of pathogenicity for gene: LDB3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | LARS2 |
Rebecca Foulger gene: LARS2 was added gene: LARS2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LARS2 were set to 23541342 Phenotypes for gene: LARS2 were set to PERRAULT SYNDROME Mode of pathogenicity for gene: LARS2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KRT74 |
Rebecca Foulger gene: KRT74 was added gene: KRT74 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KRT74 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KRT74 were set to 21188418 Phenotypes for gene: KRT74 were set to HYPOTRICHOSIS SIMPLEX OF THE SCALP 2 613981 Mode of pathogenicity for gene: KRT74 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KRAS |
Rebecca Foulger gene: KRAS was added gene: KRAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KRAS were set to CARDIOFACIOCUTANEOUS SYNDROME 115150 Mode of pathogenicity for gene: KRAS was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KLHL7 |
Rebecca Foulger gene: KLHL7 was added gene: KLHL7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KLHL7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KLHL7 were set to 27392078 Phenotypes for gene: KLHL7 were set to Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa Mode of pathogenicity for gene: KLHL7 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KLF1 |
Rebecca Foulger gene: KLF1 was added gene: KLF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KLF1 were set to 21055716 Phenotypes for gene: KLF1 were set to ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV 613673 Mode of pathogenicity for gene: KLF1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KITLG |
Rebecca Foulger gene: KITLG was added gene: KITLG was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KITLG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KITLG were set to 26522471 Phenotypes for gene: KITLG were set to WAARDENBURG SYNDROME TYPE 2 Mode of pathogenicity for gene: KITLG was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KIRREL3 |
Rebecca Foulger gene: KIRREL3 was added gene: KIRREL3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KIRREL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIRREL3 were set to 19012874 Phenotypes for gene: KIRREL3 were set to MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 4 612581 Mode of pathogenicity for gene: KIRREL3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KIF5C |
Rebecca Foulger gene: KIF5C was added gene: KIF5C was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KIF5C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIF5C were set to 23603762 Phenotypes for gene: KIF5C were set to CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 615282 Mode of pathogenicity for gene: KIF5C was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KIF2A |
Rebecca Foulger gene: KIF2A was added gene: KIF2A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KIF2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIF2A were set to 23603762 Phenotypes for gene: KIF2A were set to MALFORMATIONS OF CORTICAL DEVELOPMENT AND MICROCEPHALY. Mode of pathogenicity for gene: KIF2A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KIF22 |
Rebecca Foulger gene: KIF22 was added gene: KIF22 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KIF22 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIF22 were set to 19277648; 22152678 Phenotypes for gene: KIF22 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 603546 Mode of pathogenicity for gene: KIF22 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KIAA1109 |
Rebecca Foulger gene: KIAA1109 was added gene: KIAA1109 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA1109 were set to 25558065 Phenotypes for gene: KIAA1109 were set to Brain atrophy, Dandy Walker and Contractures Mode of pathogenicity for gene: KIAA1109 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KDM6B |
Rebecca Foulger gene: KDM6B was added gene: KDM6B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KDM6B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KDM6B were set to 21937992 Phenotypes for gene: KDM6B were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: KDM6B was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KDM5A |
Rebecca Foulger gene: KDM5A was added gene: KDM5A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KDM5A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KDM5A were set to 21937992 Phenotypes for gene: KDM5A were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: KDM5A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KDM1A |
Rebecca Foulger gene: KDM1A was added gene: KDM1A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KDM1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KDM1A were set to 26656649 Phenotypes for gene: KDM1A were set to Developmental delay and distinctive facial features Mode of pathogenicity for gene: KDM1A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KCTD1 |
Rebecca Foulger gene: KCTD1 was added gene: KCTD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCTD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCTD1 were set to 23541344 Phenotypes for gene: KCTD1 were set to SCALP-EAR-NIPPLE SYNDROME Mode of pathogenicity for gene: KCTD1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KCNT1 |
Rebecca Foulger gene: KCNT1 was added gene: KCNT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNT1 were set to 23086397 Phenotypes for gene: KCNT1 were set to MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY Mode of pathogenicity for gene: KCNT1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KCNQ3 |
Rebecca Foulger gene: KCNQ3 was added gene: KCNQ3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNQ3 were set to KCNQ3 syndrome Mode of pathogenicity for gene: KCNQ3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KCNMA1 |
Rebecca Foulger gene: KCNMA1 was added gene: KCNMA1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KCNMA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNMA1 were set to 15937479 Phenotypes for gene: KCNMA1 were set to GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA 609446 Mode of pathogenicity for gene: KCNMA1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KCNK9 |
Rebecca Foulger gene: KCNK9 was added gene: KCNK9 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KCNK9 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Phenotypes for gene: KCNK9 were set to BIRK-BAREL SYNDROME 612292 Mode of pathogenicity for gene: KCNK9 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KCNJ6 |
Rebecca Foulger gene: KCNJ6 was added gene: KCNJ6 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KCNJ6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNJ6 were set to 25620207 Phenotypes for gene: KCNJ6 were set to KEPPEN-LUBINSKY SYNDROME 614098 Mode of pathogenicity for gene: KCNJ6 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KCNH5 |
Rebecca Foulger gene: KCNH5 was added gene: KCNH5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KCNH5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNH5 were set to 23647072 Phenotypes for gene: KCNH5 were set to INFANTILE EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: KCNH5 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KCNH1 |
Rebecca Foulger gene: KCNH1 was added gene: KCNH1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KCNH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNH1 were set to 25420144 Phenotypes for gene: KCNH1 were set to TEMPLE BARRAISTER SYNDROME 611816 Mode of pathogenicity for gene: KCNH1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KCNE1 |
Rebecca Foulger gene: KCNE1 was added gene: KCNE1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KCNE1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: KCNE1 were set to JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2 612347 Mode of pathogenicity for gene: KCNE1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KCNC3 |
Rebecca Foulger gene: KCNC3 was added gene: KCNC3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNC3 were set to SPINOCEREBELLAR ATAXIA TYPE 13 605259 Mode of pathogenicity for gene: KCNC3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KCNC1 |
Rebecca Foulger gene: KCNC1 was added gene: KCNC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNC1 were set to 25401298 Phenotypes for gene: KCNC1 were set to EPILEPSY, PROGRESSIVE MYOCLONIC 7 616187 Mode of pathogenicity for gene: KCNC1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KCNB1 |
Rebecca Foulger gene: KCNB1 was added gene: KCNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNB1 were set to 25164438 Phenotypes for gene: KCNB1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 616056 Mode of pathogenicity for gene: KCNB1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KBTBD13 |
Rebecca Foulger gene: KBTBD13 was added gene: KBTBD13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KBTBD13 were set to 21104864; 21109227; 12805120 Phenotypes for gene: KBTBD13 were set to NEMALINE MYOPATHY 6 609273 Mode of pathogenicity for gene: KBTBD13 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | IRX5 |
Rebecca Foulger gene: IRX5 was added gene: IRX5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: IRX5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IRX5 were set to HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY 611174 Mode of pathogenicity for gene: IRX5 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | IQSEC2 |
Rebecca Foulger gene: IQSEC2 was added gene: IQSEC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IQSEC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: IQSEC2 were set to 3177466; 7943039; 20473311 Phenotypes for gene: IQSEC2 were set to MENTAL RETARDATION X-LINKED TYPE 1 309530 Mode of pathogenicity for gene: IQSEC2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | INPP5K |
Rebecca Foulger gene: INPP5K was added gene: INPP5K was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: INPP5K was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INPP5K were set to 28190459; 28190456 Phenotypes for gene: INPP5K were set to Muscular dystrophy, congenital, with cataracts and intellectual disability Mode of pathogenicity for gene: INPP5K was set to Other - please provide details in the comments |
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| DDG2P v0.1 | IL11 |
Rebecca Foulger gene: IL11 was added gene: IL11 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: IL11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL11 were set to 21741611 Phenotypes for gene: IL11 were set to CRANIOSYNOSTOSIS AND DENTAL ANOMALIES 614188 Mode of pathogenicity for gene: IL11 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | IHH |
Rebecca Foulger gene: IHH was added gene: IHH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IHH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: IHH were set to 16871364; 19277064; 18629882; 12384778; 11455389; 12525541 Phenotypes for gene: IHH were set to BRACHYDACTYLY, TYPE A1 112500 Mode of pathogenicity for gene: IHH was set to Other - please provide details in the comments |
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| DDG2P v0.1 | IGBP1 |
Rebecca Foulger gene: IGBP1 was added gene: IGBP1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: IGBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IGBP1 were set to AGENESIS OF THE CORPUS CALLOSUM WITH MENTAL RETARDATION-OCULAR COLOBOMA-MICROGNATHIA 300472 Mode of pathogenicity for gene: IGBP1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | IFT80 |
Rebecca Foulger gene: IFT80 was added gene: IFT80 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT80 were set to 17468754 Phenotypes for gene: IFT80 were set to ASPHYXIATING THORACIC DYSTROPHY 2 611263 Mode of pathogenicity for gene: IFT80 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | IFT43 |
Rebecca Foulger gene: IFT43 was added gene: IFT43 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT43 were set to 21378380 Phenotypes for gene: IFT43 were set to CRANIOECTODERMAL DYSPLASIA TYPE 3 614099 Mode of pathogenicity for gene: IFT43 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | IFT122 |
Rebecca Foulger gene: IFT122 was added gene: IFT122 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT122 were set to 19760620; 17022080; 20493458 Phenotypes for gene: IFT122 were set to CRANIOECTODERMAL DYSPLASIA 218330 Mode of pathogenicity for gene: IFT122 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | IFITM5 |
Rebecca Foulger gene: IFITM5 was added gene: IFITM5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IFITM5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IFITM5 were set to 22863195; 22863190 Phenotypes for gene: IFITM5 were set to OSTEOGENESIS IMPERFECTA TYPE V 610967 Mode of pathogenicity for gene: IFITM5 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | IFIH1 |
Rebecca Foulger gene: IFIH1 was added gene: IFIH1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IFIH1 were set to 24995871 Phenotypes for gene: IFIH1 were set to AICARDI-GOUTIERES SYNDROME 7 615846 Mode of pathogenicity for gene: IFIH1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HYLS1 |
Rebecca Foulger gene: HYLS1 was added gene: HYLS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYLS1 were set to 15843405 Phenotypes for gene: HYLS1 were set to HYDROLETHALUS SYNDROME TYPE 1 236680 Mode of pathogenicity for gene: HYLS1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HUWE1 |
Rebecca Foulger gene: HUWE1 was added gene: HUWE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HUWE1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: HUWE1 were set to 7943042; 18252223 Phenotypes for gene: HUWE1 were set to MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE 300706 Mode of pathogenicity for gene: HUWE1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HSF4 |
Rebecca Foulger gene: HSF4 was added gene: HSF4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HSF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HSF4 were set to 12089525 Phenotypes for gene: HSF4 were set to CATARACT MARNER TYPE 116800 Mode of pathogenicity for gene: HSF4 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HRAS |
Rebecca Foulger gene: HRAS was added gene: HRAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HRAS were set to 17468812; 18247425; 16835863; 17412879; 16443854; 17056636; 18039947; 17054105; 19995790; 16170316 Phenotypes for gene: HRAS were set to COSTELLO SYNDROME 218040 Mode of pathogenicity for gene: HRAS was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HOXD13 |
Rebecca Foulger gene: HOXD13 was added gene: HOXD13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HOXD13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HOXD13 were set to 19006232 Phenotypes for gene: HOXD13 were set to VACTERL ASSOCIATION 192350 Mode of pathogenicity for gene: HOXD13 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HOXB1 |
Rebecca Foulger gene: HOXB1 was added gene: HOXB1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: HOXB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HOXB1 were set to 22770981 Phenotypes for gene: HOXB1 were set to FACIAL PARESIS, HEREDITARY CONGENITAL, 3 614744 Mode of pathogenicity for gene: HOXB1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HNRNPH2 |
Rebecca Foulger gene: HNRNPH2 was added gene: HNRNPH2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: HNRNPH2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: HNRNPH2 were set to 27545675 Phenotypes for gene: HNRNPH2 were set to Neurodevelopmental Disorder in Females Mode of pathogenicity for gene: HNRNPH2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HMGCS2 |
Rebecca Foulger gene: HMGCS2 was added gene: HMGCS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMGCS2 were set to 11479731; 9727719; 12647205; 11228257; 9337379 Phenotypes for gene: HMGCS2 were set to 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY 605911 Mode of pathogenicity for gene: HMGCS2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HIST3H3 |
Rebecca Foulger gene: HIST3H3 was added gene: HIST3H3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: HIST3H3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HIST3H3 were set to 21937992 Phenotypes for gene: HIST3H3 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: HIST3H3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HIST1H4J |
Rebecca Foulger gene: HIST1H4J was added gene: HIST1H4J was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: HIST1H4J was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HIST1H4J were set to Intellectual disability with facial dysmorphism Mode of pathogenicity for gene: HIST1H4J was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HIST1H4C |
Rebecca Foulger gene: HIST1H4C was added gene: HIST1H4C was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: HIST1H4C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HIST1H4C were set to 100000; 28920961 Phenotypes for gene: HIST1H4C were set to HIST1H4C Mode of pathogenicity for gene: HIST1H4C was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HECW2 |
Rebecca Foulger gene: HECW2 was added gene: HECW2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HECW2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HECW2 were set to 27334371; 27389779 Phenotypes for gene: HECW2 were set to HECW2 Mode of pathogenicity for gene: HECW2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HCN1 |
Rebecca Foulger gene: HCN1 was added gene: HCN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HCN1 were set to 24747641 Phenotypes for gene: HCN1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 615871 Mode of pathogenicity for gene: HCN1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HARS |
Rebecca Foulger gene: HARS was added gene: HARS was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: HARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HARS were set to 22279524 Phenotypes for gene: HARS were set to USHER SYNDROME 614504 Mode of pathogenicity for gene: HARS was set to Other - please provide details in the comments |
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| DDG2P v0.1 | H3F3A |
Rebecca Foulger gene: H3F3A was added gene: H3F3A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: H3F3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: H3F3A were set to Craniofacial with neurodevelopment disorders Mode of pathogenicity for gene: H3F3A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GTF2E2 |
Rebecca Foulger gene: GTF2E2 was added gene: GTF2E2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GTF2E2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF2E2 were set to 26996949 Phenotypes for gene: GTF2E2 were set to DNA Repair-Proficient Trichothiodystrophy Mode of pathogenicity for gene: GTF2E2 was set to Other - please provide details in the comments |
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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 | GRIN1 |
Rebecca Foulger gene: GRIN1 was added gene: GRIN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GRIN1 were set to 23934111; 27164704 Phenotypes for gene: GRIN1 were set to EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: GRIN1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GRHL2 |
Rebecca Foulger gene: GRHL2 was added gene: GRHL2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GRHL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GRHL2 were set to ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME 616029 Mode of pathogenicity for gene: GRHL2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GNB1 |
Rebecca Foulger gene: GNB1 was added gene: GNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNB1 were set to 27108799; 30194818 Phenotypes for gene: GNB1 were set to Severe Neurodevelopmental Disability, Hypotonia, and Seizures Mode of pathogenicity for gene: GNB1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GNAQ |
Rebecca Foulger gene: GNAQ was added gene: GNAQ was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GNAQ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNAQ were set to 27058448 Phenotypes for gene: GNAQ were set to Congenital Hemangioma Mode of pathogenicity for gene: GNAQ was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GNAI3 |
Rebecca Foulger gene: GNAI3 was added gene: GNAI3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNAI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNAI3 were set to 11102934 Phenotypes for gene: GNAI3 were set to AURICULOCONDYLAR SYNDROME 602483 Mode of pathogenicity for gene: GNAI3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GNA14 |
Rebecca Foulger gene: GNA14 was added gene: GNA14 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GNA14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNA14 were set to 27476652 Phenotypes for gene: GNA14 were set to Congenital vascular tumours Mode of pathogenicity for gene: GNA14 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GNA11 |
Rebecca Foulger gene: GNA11 was added gene: GNA11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNA11 were set to 27058448 Phenotypes for gene: GNA11 were set to Congenital Hemangioma Mode of pathogenicity for gene: GNA11 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GMPPB |
Rebecca Foulger gene: GMPPB was added gene: GMPPB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GMPPB were set to 23768512 Phenotypes for gene: GMPPB were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 615350 Mode of pathogenicity for gene: GMPPB was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GMNN |
Rebecca Foulger gene: GMNN was added gene: GMNN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GMNN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GMNN were set to 26637980 Phenotypes for gene: GMNN were set to Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome Mode of pathogenicity for gene: GMNN was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GLUL |
Rebecca Foulger gene: GLUL was added gene: GLUL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLUL were set to 16267323; 21353613 Phenotypes for gene: GLUL were set to CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY 610015 Mode of pathogenicity for gene: GLUL was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GLUD1 |
Rebecca Foulger gene: GLUD1 was added gene: GLUD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GLUD1 were set to 10636977; 11214910; 9571255 Phenotypes for gene: GLUD1 were set to HYPERINSULINISM-HYPERAMMONEMIA SYNDROME 606762 Mode of pathogenicity for gene: GLUD1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GLE1 |
Rebecca Foulger gene: GLE1 was added gene: GLE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLE1 were set to 18204449 Phenotypes for gene: GLE1 were set to ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE 611890 Mode of pathogenicity for gene: GLE1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GJC2 |
Rebecca Foulger gene: GJC2 was added gene: GJC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GJC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GJC2 were set to 20537300 Phenotypes for gene: GJC2 were set to LYMPHEDEMA, HEREDITARY, IC 613480 Mode of pathogenicity for gene: GJC2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GJA8 |
Rebecca Foulger gene: GJA8 was added gene: GJA8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GJA8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GJA8 were set to 16604058; 10480374; 18006672; 11846744; 9497259; 14627691 Phenotypes for gene: GJA8 were set to CATARACT ZONULAR PULVERULENT TYPE 1 116200 Mode of pathogenicity for gene: GJA8 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GJA3 |
Rebecca Foulger gene: GJA3 was added gene: GJA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GJA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GJA3 were set to 10205266; 22550389; 21681855; 22876138; 15448617; 10746562; 22312188 Phenotypes for gene: GJA3 were set to CATARACT ZONULAR PULVERULENT CATARACT TYPE 3 601885 Mode of pathogenicity for gene: GJA3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GFAP |
Rebecca Foulger gene: GFAP was added gene: GFAP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GFAP were set to 14557587; 12975300; 11567214; 12034796; 11138011; 12447932 Phenotypes for gene: GFAP were set to ALEXANDER DISEASE 203450 Mode of pathogenicity for gene: GFAP was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GDF6 |
Rebecca Foulger gene: GDF6 was added gene: GDF6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GDF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GDF6 were set to 18425797; 19129173 Phenotypes for gene: GDF6 were set to KLIPPEL-FEIL SYNDROME TYPE 1 118100 Mode of pathogenicity for gene: GDF6 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GDF5 |
Rebecca Foulger gene: GDF5 was added gene: GDF5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GDF5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GDF5 were set to 12900894; 9288098; 12124730 Phenotypes for gene: GDF5 were set to ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE 200700 Mode of pathogenicity for gene: GDF5 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GDF3 |
Rebecca Foulger gene: GDF3 was added gene: GDF3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: GDF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GDF3 were set to MICROPHTHALMIA ISOLATED TYPE 7 613704 Mode of pathogenicity for gene: GDF3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GCH1 |
Rebecca Foulger gene: GCH1 was added gene: GCH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GCH1 were set to 7730309; 12552057; 10987649; 9667588 Phenotypes for gene: GCH1 were set to GTP CYCLOHYDROLASE 1 DEFICIENCY 233910 Mode of pathogenicity for gene: GCH1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GCDH |
Rebecca Foulger gene: GCDH was added gene: GCDH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCDH were set to 11174631; 8900227; 10699052; 7795610; 8900228 Phenotypes for gene: GCDH were set to GLUTARICACIDEMIA TYPE 1 231670 Mode of pathogenicity for gene: GCDH was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GBA2 |
Rebecca Foulger gene: GBA2 was added gene: GBA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBA2 were set to 23332917 Phenotypes for gene: GBA2 were set to AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA WITH SPASTICITY. |
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| DDG2P v0.1 | GAD1 |
Rebecca Foulger gene: GAD1 was added gene: GAD1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: GAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAD1 were set to 15571623 Phenotypes for gene: GAD1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 1 603513 Mode of pathogenicity for gene: GAD1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GABRB3 |
Rebecca Foulger gene: GABRB3 was added gene: GABRB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GABRB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GABRB3 were set to 18514161 Phenotypes for gene: GABRB3 were set to CHILDHOOD ABSENCE EPILEPSY TYPE 5 612269 Mode of pathogenicity for gene: GABRB3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GABRB2 |
Rebecca Foulger gene: GABRB2 was added gene: GABRB2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GABRB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GABRB2 were set to 29100083 Phenotypes for gene: GABRB2 were set to Epilepsy and intellectual disability Mode of pathogenicity for gene: GABRB2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GABBR2 |
Rebecca Foulger gene: GABBR2 was added gene: GABBR2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: GABBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GABBR2 were set to 25262651 Phenotypes for gene: GABBR2 were set to EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: GABBR2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FZD5 |
Rebecca Foulger gene: FZD5 was added gene: FZD5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FZD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FZD5 were set to 26908622 Phenotypes for gene: FZD5 were set to Autosomal Dominant Coloboma Mode of pathogenicity for gene: FZD5 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FTO |
Rebecca Foulger gene: FTO was added gene: FTO was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: FTO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FTO were set to 19559399 Phenotypes for gene: FTO were set to GROWTH RETARDATION DEVELOPMENTAL DELAY COARSE FACIES AND EARLY DEATH 612938 Mode of pathogenicity for gene: FTO was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FOXE1 |
Rebecca Foulger gene: FOXE1 was added gene: FOXE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOXE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FOXE1 were set to BAMFORTH-LAZARUS SYNDROME 241850 Mode of pathogenicity for gene: FOXE1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FN1 |
Rebecca Foulger gene: FN1 was added gene: FN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FN1 were set to 29100092 Phenotypes for gene: FN1 were set to Spondylometaphyseal Dysplasia with Corner Fractures Mode of pathogenicity for gene: FN1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FLVCR1 |
Rebecca Foulger gene: FLVCR1 was added gene: FLVCR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLVCR1 were set to 21070897; 9409377; 21267618 Phenotypes for gene: FLVCR1 were set to ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA 609033 Mode of pathogenicity for gene: FLVCR1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FLT4 |
Rebecca Foulger gene: FLT4 was added gene: FLT4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FLT4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FLT4 were set to 12960217; 10835628; 16965327; 10856194; 19289394; 16924388 Phenotypes for gene: FLT4 were set to MILROY DISEASE 153100 Mode of pathogenicity for gene: FLT4 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FGFR3 |
Rebecca Foulger gene: FGFR3 was added gene: FGFR3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGFR3 were set to LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME 149730 Mode of pathogenicity for gene: FGFR3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FGFR2 |
Rebecca Foulger gene: FGFR2 was added gene: FGFR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FGFR2 were set to 17621648; 15523492; 7581378; 9152842; 7874170; 7607643; 8528214; 7987400; 7655462; 9677057; 22038757 Phenotypes for gene: FGFR2 were set to CROUZON SYNDROME 123500 Mode of pathogenicity for gene: FGFR2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FGF12 |
Rebecca Foulger gene: FGF12 was added gene: FGF12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FGF12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FGF12 were set to 27830185; 27164707; 27872899 Phenotypes for gene: FGF12 were set to EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: FGF12 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FBXW4 |
Rebecca Foulger gene: FBXW4 was added gene: FBXW4 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: FBXW4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FBXW4 were set to SPLIT-HAND/FOOT MALFORMATION TYPE 3 246560 Mode of pathogenicity for gene: FBXW4 was set to part of contiguous gene duplication |
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| DDG2P v0.1 | FBXO25 |
Rebecca Foulger gene: FBXO25 was added gene: FBXO25 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: FBXO25 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FBXO25 were set to F-BOX ONLY PROTEIN 25 609098 Mode of pathogenicity for gene: FBXO25 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FBN2 |
Rebecca Foulger gene: FBN2 was added gene: FBN2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FBN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBN2 were set to 10797416; 11281275; 9199560; 8900230; 9737771; 20799338; 9106527 Phenotypes for gene: FBN2 were set to CONGENITAL CONTRACTURAL ARACHNODACTYLY 121050 Mode of pathogenicity for gene: FBN2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FBLN1 |
Rebecca Foulger gene: FBLN1 was added gene: FBLN1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: FBLN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FBLN1 were set to SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES 608180 Mode of pathogenicity for gene: FBLN1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FASN |
Rebecca Foulger gene: FASN was added gene: FASN was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: FASN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FASN were set to 21937992 Phenotypes for gene: FASN were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: FASN was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FAM111A |
Rebecca Foulger gene: FAM111A was added gene: FAM111A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FAM111A were set to 23684011 Phenotypes for gene: FAM111A were set to KENNY-CAFFEY SYNDROME 127000 Mode of pathogenicity for gene: FAM111A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | EZH2 |
Rebecca Foulger gene: EZH2 was added gene: EZH2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EZH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EZH2 were set to WEAVER SYNDROME 2 614421 Mode of pathogenicity for gene: EZH2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | EXOSC3 |
Rebecca Foulger gene: EXOSC3 was added gene: EXOSC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EXOSC3 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 1 607596 Mode of pathogenicity for gene: EXOSC3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ERLIN2 |
Rebecca Foulger gene: ERLIN2 was added gene: ERLIN2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ERLIN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERLIN2 were set to 21937992 Phenotypes for gene: ERLIN2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: ERLIN2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ERBB3 |
Rebecca Foulger gene: ERBB3 was added gene: ERBB3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERBB3 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2 607598 Mode of pathogenicity for gene: ERBB3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | EPB41L1 |
Rebecca Foulger gene: EPB41L1 was added gene: EPB41L1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: EPB41L1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EPB41L1 were set to 21376300 Phenotypes for gene: EPB41L1 were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: EPB41L1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ENTPD1 |
Rebecca Foulger gene: ENTPD1 was added gene: ENTPD1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ENTPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ENTPD1 were set to 21937992 Phenotypes for gene: ENTPD1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: ENTPD1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | EMG1 |
Rebecca Foulger gene: EMG1 was added gene: EMG1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: EMG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EMG1 were set to 26676230; 19463982; 25708872; 27798105 Phenotypes for gene: EMG1 were set to Bowen-Conradi syndrome Mode of pathogenicity for gene: EMG1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ELP2 |
Rebecca Foulger gene: ELP2 was added gene: ELP2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ELP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ELP2 were set to 21937992 Phenotypes for gene: ELP2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: ELP2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | EIF4A3 |
Rebecca Foulger gene: EIF4A3 was added gene: EIF4A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EIF4A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF4A3 were set to 24360810 Phenotypes for gene: EIF4A3 were set to RICHIERI-COSTA-PEREIRA SYNDROME Mode of pathogenicity for gene: EIF4A3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | EEF1A2 |
Rebecca Foulger gene: EEF1A2 was added gene: EEF1A2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: EEF1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EEF1A2 were set to 23647072 Phenotypes for gene: EEF1A2 were set to INFANTILE EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: EEF1A2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | EED |
Rebecca Foulger gene: EED was added gene: EED was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: EED was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EED were set to 28475857; 27193220; 25787343; 27868325 Phenotypes for gene: EED were set to Weaver-like overgrowth syndrome Mode of pathogenicity for gene: EED was set to Other - please provide details in the comments |
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| DDG2P v0.1 | EDNRA |
Rebecca Foulger gene: EDNRA was added gene: EDNRA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EDNRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EDNRA were set to 25772936 Phenotypes for gene: EDNRA were set to MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA Mode of pathogenicity for gene: EDNRA was set to Other - please provide details in the comments |
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| DDG2P v0.1 | DYNC1H1 |
Rebecca Foulger gene: DYNC1H1 was added gene: DYNC1H1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DYNC1H1 were set to 22459677 Phenotypes for gene: DYNC1H1 were set to SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD 158600 Mode of pathogenicity for gene: DYNC1H1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | DVL3 |
Rebecca Foulger gene: DVL3 was added gene: DVL3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DVL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DVL3 were set to 26924530 Phenotypes for gene: DVL3 were set to AUTOSOMAL-DOMINANT ROBINOW SYNDROME Mode of pathogenicity for gene: DVL3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | DVL1 |
Rebecca Foulger gene: DVL1 was added gene: DVL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DVL1 were set to 25817016 Phenotypes for gene: DVL1 were set to AUTOSOMAL-DOMINANT ROBINOW SYNDROME Mode of pathogenicity for gene: DVL1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | DSE |
Rebecca Foulger gene: DSE was added gene: DSE was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DSE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DSE were set to 23704329 Phenotypes for gene: DSE were set to EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2 615539 Mode of pathogenicity for gene: DSE was set to Other - please provide details in the comments |
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| DDG2P v0.1 | DPF2 |
Rebecca Foulger gene: DPF2 was added gene: DPF2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DPF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DPF2 were set to 29429572 Phenotypes for gene: DPF2 were set to Coffin Siris like disorder Mode of pathogenicity for gene: DPF2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | DOLK |
Rebecca Foulger gene: DOLK was added gene: DOLK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOLK were set to 17273964; 22242004 Phenotypes for gene: DOLK were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379 Mode of pathogenicity for gene: DOLK was set to Other - please provide details in the comments |
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| DDG2P v0.1 | DNM1 |
Rebecca Foulger gene: DNM1 was added gene: DNM1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DNM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DNM1 were set to EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: DNM1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | DNAAF5 |
Rebecca Foulger gene: DNAAF5 was added gene: DNAAF5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAAF5 were set to 23040496 Phenotypes for gene: DNAAF5 were set to CILIARY DYSKINESIA, PRIMARY, 18 614874 Mode of pathogenicity for gene: DNAAF5 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | DMPK |
Rebecca Foulger gene: DMPK was added gene: DMPK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DMPK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DMPK were set to DYSTROPHIA MYOTONICA TYPE 1 160900 Mode of pathogenicity for gene: DMPK was set to Other - please provide details in the comments |
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| DDG2P v0.1 | DLX5 |
Rebecca Foulger gene: DLX5 was added gene: DLX5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DLX5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DLX5 were set to 22121204 Phenotypes for gene: DLX5 were set to SPLIT HAND AND FOOT MALFORMATION 220600 Mode of pathogenicity for gene: DLX5 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | DIP2B |
Rebecca Foulger gene: DIP2B was added gene: DIP2B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DIP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DIP2B were set to 17236128 Phenotypes for gene: DIP2B were set to MENTAL RETARDATION, FRA12A TYPE 136630 Mode of pathogenicity for gene: DIP2B was set to Other - please provide details in the comments |
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| DDG2P v0.1 | DHX30 |
Rebecca Foulger gene: DHX30 was added gene: DHX30 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DHX30 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DHX30 were set to 29100085 Phenotypes for gene: DHX30 were set to Neurodevelopmental Disorder Mode of pathogenicity for gene: DHX30 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | DHRS3 |
Rebecca Foulger gene: DHRS3 was added gene: DHRS3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DHRS3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHRS3 were set to DHRS3 related craniosynostosis Mode of pathogenicity for gene: DHRS3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | DHFR |
Rebecca Foulger gene: DHFR was added gene: DHFR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHFR were set to 21310277; 21310276 Phenotypes for gene: DHFR were set to MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY 613839 Mode of pathogenicity for gene: DHFR was set to Other - please provide details in the comments |
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| DDG2P v0.1 | DHDDS |
Rebecca Foulger gene: DHDDS was added gene: DHDDS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DHDDS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DHDDS were set to 29100083 Phenotypes for gene: DHDDS were set to Epilepsy and intellectual disability Mode of pathogenicity for gene: DHDDS was set to Other - please provide details in the comments |
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| DDG2P v0.1 | DEAF1 |
Rebecca Foulger gene: DEAF1 was added gene: DEAF1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DEAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DEAF1 were set to 24726472; 21076407 Phenotypes for gene: DEAF1 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 615828 Mode of pathogenicity for gene: DEAF1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | DDX6 |
Rebecca Foulger gene: DDX6 was added gene: DDX6 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DDX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DDX6 were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: DDX6 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | DDX59 |
Rebecca Foulger gene: DDX59 was added gene: DDX59 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDX59 were set to 23972372 Phenotypes for gene: DDX59 were set to OROFACIODIGITAL SYNDROME Mode of pathogenicity for gene: DDX59 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | DDX58 |
Rebecca Foulger gene: DDX58 was added gene: DDX58 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DDX58 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DDX58 were set to 25620203 Phenotypes for gene: DDX58 were set to SINGLETON-MERTEN SYNDROME 182250 Mode of pathogenicity for gene: DDX58 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | DDR2 |
Rebecca Foulger gene: DDR2 was added gene: DDR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DDR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDR2 were set to 19110212; 8434618 Phenotypes for gene: DDR2 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE 271665 Mode of pathogenicity for gene: DDR2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | DARS |
Rebecca Foulger gene: DARS was added gene: DARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DARS were set to 23643384 Phenotypes for gene: DARS were set to HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY. 615281 Mode of pathogenicity for gene: DARS was set to Other - please provide details in the comments |
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| DDG2P v0.1 | DAG1 |
Rebecca Foulger gene: DAG1 was added gene: DAG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DAG1 were set to 21388311 Phenotypes for gene: DAG1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7 613818 Mode of pathogenicity for gene: DAG1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CYP1B1 |
Rebecca Foulger gene: CYP1B1 was added gene: CYP1B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CYP1B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP1B1 were set to 9463332; 10227395; 9497261; 15342693; 19643970; 12372064; 19807744; 9097971 Phenotypes for gene: CYP1B1 were set to PRIMARY CONGENITAL GLAUCOMA TYPE 3A 231300 Mode of pathogenicity for gene: CYP1B1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CYC1 |
Rebecca Foulger gene: CYC1 was added gene: CYC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CYC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYC1 were set to 23910460 Phenotypes for gene: CYC1 were set to MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 615453 Mode of pathogenicity for gene: CYC1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CUX2 |
Rebecca Foulger gene: CUX2 was added gene: CUX2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CUX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CUX2 were set to 29630738 Phenotypes for gene: CUX2 were set to Developmental epileptic encephalopathy Mode of pathogenicity for gene: CUX2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CSNK2A1 |
Rebecca Foulger gene: CSNK2A1 was added gene: CSNK2A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CSNK2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CSNK2A1 were set to CSNK2A1 syndrome Mode of pathogenicity for gene: CSNK2A1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CSNK1G1 |
Rebecca Foulger gene: CSNK1G1 was added gene: CSNK1G1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CSNK1G1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CSNK1G1 were set to 24463883 Phenotypes for gene: CSNK1G1 were set to EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY AND MICROCEPHALY Mode of pathogenicity for gene: CSNK1G1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CRYBB3 |
Rebecca Foulger gene: CRYBB3 was added gene: CRYBB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CRYBB3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRYBB3 were set to 15914629 Phenotypes for gene: CRYBB3 were set to CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2 609741 Mode of pathogenicity for gene: CRYBB3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CRYBA4 |
Rebecca Foulger gene: CRYBA4 was added gene: CRYBA4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CRYBA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CRYBA4 were set to 16960806; 15452067 Phenotypes for gene: CRYBA4 were set to CATARACT ZONULAR TYPE 2 610425 Mode of pathogenicity for gene: CRYBA4 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CRYBA1 |
Rebecca Foulger gene: CRYBA1 was added gene: CRYBA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CRYBA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CRYBA1 were set to 14598164 Phenotypes for gene: CRYBA1 were set to CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES 600881 |
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| DDG2P v0.1 | CRKL |
Rebecca Foulger gene: CRKL was added gene: CRKL was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CRKL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CRKL were set to Bladder exstrophy plus Mode of pathogenicity for gene: CRKL was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CRELD1 |
Rebecca Foulger gene: CRELD1 was added gene: CRELD1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CRELD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CRELD1 were set to HETEROTAXY SYNDROME 207574 Mode of pathogenicity for gene: CRELD1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CRADD |
Rebecca Foulger gene: CRADD was added gene: CRADD was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CRADD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRADD were set to 22279524 Phenotypes for gene: CRADD were set to MENTAL RETARDATION, NON-SYNDROMIC 614499 Mode of pathogenicity for gene: CRADD was set to Other - please provide details in the comments |
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| DDG2P v0.1 | COX10 |
Rebecca Foulger gene: COX10 was added gene: COX10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX10 were set to 10944442; 20818383; 15214016; 9837813; 22499348; 19107570; 12928484; 15863660; 17604671; 10647889; 15455402; 9843204; 11317352; 10746566; 17275378 Phenotypes for gene: COX10 were set to LEIGH SYNDROME 256000 Mode of pathogenicity for gene: COX10 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | COQ5 |
Rebecca Foulger gene: COQ5 was added gene: COQ5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: COQ5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ5 were set to 21937992 Phenotypes for gene: COQ5 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: COQ5 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | COMP |
Rebecca Foulger gene: COMP was added gene: COMP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COMP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COMP were set to ARE THE CAUSE OF PSEUDOACHONDROPLASIA 177170 Mode of pathogenicity for gene: COMP was set to Other - please provide details in the comments |
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| DDG2P v0.1 | COL9A3 |
Rebecca Foulger gene: COL9A3 was added gene: COL9A3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL9A3 were set to 10655510; 15551337; 10090888 Phenotypes for gene: COL9A3 were set to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3 600969 Mode of pathogenicity for gene: COL9A3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | COL6A1 |
Rebecca Foulger gene: COL6A1 was added gene: COL6A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL6A1 were set to COL6A1 associated myopathy Mode of pathogenicity for gene: COL6A1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | COL4A3BP |
Rebecca Foulger gene: COL4A3BP was added gene: COL4A3BP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL4A3BP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL4A3BP were set to 25533962 Phenotypes for gene: COL4A3BP were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: COL4A3BP was set to Other - please provide details in the comments |
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| DDG2P v0.1 | COL4A2 |
Rebecca Foulger gene: COL4A2 was added gene: COL4A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL4A2 were set to PORENCEPHALY 2 614483 Mode of pathogenicity for gene: COL4A2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | COL4A1 |
Rebecca Foulger gene: COL4A1 was added gene: COL4A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL4A1 were set to PORENCEPHALY 1 175780 Mode of pathogenicity for gene: COL4A1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | COL1A1 |
Rebecca Foulger gene: COL1A1 was added gene: COL1A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL1A1 were set to 3082886; 18409203; 9295084 Phenotypes for gene: COL1A1 were set to EHLERS-DANLOS SYNDROME TYPE VIIA 319158 Mode of pathogenicity for gene: COL1A1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | COL11A2 |
Rebecca Foulger gene: COL11A2 was added gene: COL11A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL11A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL11A2 were set to 10677296; 7859284; 16637051; 16189708 Phenotypes for gene: COL11A2 were set to AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA 215150 Mode of pathogenicity for gene: COL11A2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | COL10A1 |
Rebecca Foulger gene: COL10A1 was added gene: COL10A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL10A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL10A1 were set to 10991694; 7749409; 9852679; 9468540; 9525992; 7607655; 8012364; 8304336; 9067753; 8004099; 8986632; 12554676; 8554571; 17403716 Phenotypes for gene: COL10A1 were set to SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA 156500 Mode of pathogenicity for gene: COL10A1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CLPP |
Rebecca Foulger gene: CLPP was added gene: CLPP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLPP were set to 23541340 Phenotypes for gene: CLPP were set to PERRAULT SYNDROME Mode of pathogenicity for gene: CLPP was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CLP1 |
Rebecca Foulger gene: CLP1 was added gene: CLP1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLP1 were set to 24766809 Phenotypes for gene: CLP1 were set to PONTOCEREBELLAR HYPOPLASIA, TYPE 10 615803 Mode of pathogenicity for gene: CLP1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CLIC2 |
Rebecca Foulger gene: CLIC2 was added gene: CLIC2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CLIC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CLIC2 were set to 22814392 Phenotypes for gene: CLIC2 were set to Mental retardation, X-linked, syndromic 32 Mode of pathogenicity for gene: CLIC2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CLDN19 |
Rebecca Foulger gene: CLDN19 was added gene: CLDN19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLDN19 were set to 17033971 Phenotypes for gene: CLDN19 were set to HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT 248190 Mode of pathogenicity for gene: CLDN19 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CLCN4 |
Rebecca Foulger gene: CLCN4 was added gene: CLCN4 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CLCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CLCN4 were set to 23647072; 25644381 Phenotypes for gene: CLCN4 were set to INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY Mode of pathogenicity for gene: CLCN4 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CIT |
Rebecca Foulger gene: CIT was added gene: CIT was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CIT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CIT were set to 27453578 Phenotypes for gene: CIT were set to PRIMARY MICROCEPHALY 615414 Mode of pathogenicity for gene: CIT was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CIC |
Rebecca Foulger gene: CIC was added gene: CIC was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CIC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CIC were set to CAPICUA, DROSOPHILA, HOMOLOG OF 612082 Mode of pathogenicity for gene: CIC was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CHRNB2 |
Rebecca Foulger gene: CHRNB2 was added gene: CHRNB2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CHRNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHRNB2 were set to CHRNB2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 605375 Mode of pathogenicity for gene: CHRNB2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CHRNA4 |
Rebecca Foulger gene: CHRNA4 was added gene: CHRNA4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CHRNA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHRNA4 were set to 7647781 Phenotypes for gene: CHRNA4 were set to NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1 600513 Mode of pathogenicity for gene: CHRNA4 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CHRNA2 |
Rebecca Foulger gene: CHRNA2 was added gene: CHRNA2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CHRNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHRNA2 were set to CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 291607 Mode of pathogenicity for gene: CHRNA2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CHD3 |
Rebecca Foulger gene: CHD3 was added gene: CHD3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHD3 were set to Apraxia of speech Mode of pathogenicity for gene: CHD3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CFL2 |
Rebecca Foulger gene: CFL2 was added gene: CFL2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFL2 were set to 17160903 Phenotypes for gene: CFL2 were set to NEMALINE MYOPATHY 7 610687 Mode of pathogenicity for gene: CFL2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CDON |
Rebecca Foulger gene: CDON was added gene: CDON was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CDON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDON were set to 21802063 Phenotypes for gene: CDON were set to HOLOPROSENCEPHALY 11 614226 Mode of pathogenicity for gene: CDON was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CDK13 |
Rebecca Foulger gene: CDK13 was added gene: CDK13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CDK13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDK13 were set to 27479907 Phenotypes for gene: CDK13 were set to Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease Mode of pathogenicity for gene: CDK13 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CDH1 |
Rebecca Foulger gene: CDH1 was added gene: CDH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDH1 were set to 100000 Phenotypes for gene: CDH1 were set to Blepharo-cheiro-dontic syndrome Mode of pathogenicity for gene: CDH1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CCND2 |
Rebecca Foulger gene: CCND2 was added gene: CCND2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CCND2 were set to MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 603387 Mode of pathogenicity for gene: CCND2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CCDC22 |
Rebecca Foulger gene: CCDC22 was added gene: CCDC22 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CCDC22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CCDC22 were set to SYNDROMIC X-LINKED INTELLECTUAL DISABILITY Mode of pathogenicity for gene: CCDC22 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CBL |
Rebecca Foulger gene: CBL was added gene: CBL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CBL were set to 20694012; 20619386; 20543203 Phenotypes for gene: CBL were set to NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA 613563 Mode of pathogenicity for gene: CBL was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CACNA1H |
Rebecca Foulger gene: CACNA1H was added gene: CACNA1H was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CACNA1H was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CACNA1H were set to EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 611942 Mode of pathogenicity for gene: CACNA1H was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CACNA1C |
Rebecca Foulger gene: CACNA1C was added gene: CACNA1C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CACNA1C were set to 15454078 Phenotypes for gene: CACNA1C were set to TIMOTHY SYNDROME 601005 Mode of pathogenicity for gene: CACNA1C was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CACNA1A |
Rebecca Foulger gene: CACNA1A was added gene: CACNA1A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CACNA1A were set to 27476654; 28927557; 28742085; 23934111; 29366381 Phenotypes for gene: CACNA1A were set to EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: CACNA1A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | C1QBP |
Rebecca Foulger gene: C1QBP was added gene: C1QBP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C1QBP were set to 28942965 Phenotypes for gene: C1QBP were set to Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies Mode of pathogenicity for gene: C1QBP was set to Other - please provide details in the comments |
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| DDG2P v0.1 | C12orf57 |
Rebecca Foulger gene: C12orf57 was added gene: C12orf57 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C12orf57 were set to 23453666 Phenotypes for gene: C12orf57 were set to COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY 218340; TEMTAMY SYNDROME Mode of pathogenicity for gene: C12orf57 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | BRAF |
Rebecca Foulger gene: BRAF was added gene: BRAF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BRAF were set to 19206169 Phenotypes for gene: BRAF were set to NOONAN SYNDROME TYPE 7 613706 Mode of pathogenicity for gene: BRAF was set to Other - please provide details in the comments |
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| DDG2P v0.1 | BPIFB6 |
Rebecca Foulger gene: BPIFB6 was added gene: BPIFB6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: BPIFB6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BPIFB6 were set to BACTERICIDAL PERMEABILITY-INCREASING PROTEIN-LIKE 3 614110 Mode of pathogenicity for gene: BPIFB6 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | BICD2 |
Rebecca Foulger gene: BICD2 was added gene: BICD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BICD2 were set to 23664120 Phenotypes for gene: BICD2 were set to PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE Mode of pathogenicity for gene: BICD2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | BHLHA9 |
Rebecca Foulger gene: BHLHA9 was added gene: BHLHA9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BHLHA9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: BHLHA9 were set to 25466284 Phenotypes for gene: BHLHA9 were set to MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE 69432 Mode of pathogenicity for gene: BHLHA9 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | BFSP2 |
Rebecca Foulger gene: BFSP2 was added gene: BFSP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BFSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BFSP2 were set to 10634598; 10729115 Phenotypes for gene: BFSP2 were set to CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED 611597 Mode of pathogenicity for gene: BFSP2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | BANF1 |
Rebecca Foulger gene: BANF1 was added gene: BANF1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: BANF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BANF1 were set to 21549337 Phenotypes for gene: BANF1 were set to NESTOR-GUILLERMO PROGERIA SYNDROME 614008 Mode of pathogenicity for gene: BANF1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | AXIN1 |
Rebecca Foulger gene: AXIN1 was added gene: AXIN1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: AXIN1 was set to Phenotypes for gene: AXIN1 were set to CAUDAL DUPLICATION ANOMALY 607864 Mode of pathogenicity for gene: AXIN1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ATP8A2 |
Rebecca Foulger gene: ATP8A2 was added gene: ATP8A2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP8A2 were set to 22892528 Phenotypes for gene: ATP8A2 were set to CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 615268 Mode of pathogenicity for gene: ATP8A2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ATP6V1B2 |
Rebecca Foulger gene: ATP6V1B2 was added gene: ATP6V1B2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ATP6V1B2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATP6V1B2 were set to 25915598 Phenotypes for gene: ATP6V1B2 were set to ZIMMERMANN-LABAND SYNDROME Mode of pathogenicity for gene: ATP6V1B2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ATP6AP2 |
Rebecca Foulger gene: ATP6AP2 was added gene: ATP6AP2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ATP6AP2 were set to MENTAL RETARDATION X-LINKED WITH EPILEPSY 300423 Mode of pathogenicity for gene: ATP6AP2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ATP1A3 |
Rebecca Foulger gene: ATP1A3 was added gene: ATP1A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ATP1A3 were set to RAPID-ONSET DYSTONIA-PARKINSONISM 128235 Mode of pathogenicity for gene: ATP1A3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ATOH7 |
Rebecca Foulger gene: ATOH7 was added gene: ATOH7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ATOH7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATOH7 were set to RETINAL NON-ATTACHMENT CONGENITAL NON-SYNDROMIC 221900 Mode of pathogenicity for gene: ATOH7 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ASS1 |
Rebecca Foulger gene: ASS1 was added gene: ASS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASS1 were set to CITRULLINEMIA TYPE I 615700 |
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| DDG2P v0.1 | ASH1L |
Rebecca Foulger gene: ASH1L was added gene: ASH1L was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ASH1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ASH1L were set to 25961944; 28394464; 29753921; 29276005 Phenotypes for gene: ASH1L were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: ASH1L was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ASCL1 |
Rebecca Foulger gene: ASCL1 was added gene: ASCL1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ASCL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASCL1 were set to 21937992 Phenotypes for gene: ASCL1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: ASCL1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ASCC3 |
Rebecca Foulger gene: ASCC3 was added gene: ASCC3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ASCC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASCC3 were set to 21937992 Phenotypes for gene: ASCC3 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: ASCC3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ARL14EP |
Rebecca Foulger gene: ARL14EP was added gene: ARL14EP was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ARL14EP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL14EP were set to 21937992 Phenotypes for gene: ARL14EP were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: ARL14EP was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ANKRD26 |
Rebecca Foulger gene: ANKRD26 was added gene: ANKRD26 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ANKRD26 were set to 21211618; 10521306 Phenotypes for gene: ANKRD26 were set to THROMBOCYTOPENIA 2 188000 Mode of pathogenicity for gene: ANKRD26 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ALPL |
Rebecca Foulger gene: ALPL was added gene: ALPL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALPL were set to 3174660 Phenotypes for gene: ALPL were set to HYPOPHOSPHATASIA 241500 Mode of pathogenicity for gene: ALPL was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ALG13 |
Rebecca Foulger gene: ALG13 was added gene: ALG13 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ALG13 was set to X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ALG13 were set to 23934111 Phenotypes for gene: ALG13 were set to EPILEPTIC ENCEPHALOPATHIES. Mode of pathogenicity for gene: ALG13 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ALDOA |
Rebecca Foulger gene: ALDOA was added gene: ALDOA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDOA were set to 8598869; 2825199 Phenotypes for gene: ALDOA were set to GLYCOGEN STORAGE DISEASE XII 611881 Mode of pathogenicity for gene: ALDOA was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ALAD |
Rebecca Foulger gene: ALAD was added gene: ALAD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALAD were set to 2063868 Phenotypes for gene: ALAD were set to ACUTE HEPATIC PORPHYRIA 612740 Mode of pathogenicity for gene: ALAD was set to Other - please provide details in the comments |
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| DDG2P v0.1 | AKT3 |
Rebecca Foulger gene: AKT3 was added gene: AKT3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AKT3 were set to 22500628; 22729224 Phenotypes for gene: AKT3 were set to HEMIMEGALENCEPHALY AKT3 603387 Mode of pathogenicity for gene: AKT3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | AKT1 |
Rebecca Foulger gene: AKT1 was added gene: AKT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AKT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AKT1 were set to PROTEUS SYNDROME 176920 Mode of pathogenicity for gene: AKT1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | AIFM1 |
Rebecca Foulger gene: AIFM1 was added gene: AIFM1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: AIFM1 were set to 23217327 Phenotypes for gene: AIFM1 were set to COWCHOCK SYNDROME Mode of pathogenicity for gene: AIFM1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | AGPS |
Rebecca Foulger gene: AGPS was added gene: AGPS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGPS were set to 7807941; 11152660 Phenotypes for gene: AGPS were set to RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 600121 Mode of pathogenicity for gene: AGPS was set to Other - please provide details in the comments |
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| DDG2P v0.1 | AFF4 |
Rebecca Foulger gene: AFF4 was added gene: AFF4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AFF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AFF4 were set to 25730767 Phenotypes for gene: AFF4 were set to CORNELIA DE LANGE-LIKE SYNDROME Mode of pathogenicity for gene: AFF4 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | AFF3 |
Rebecca Foulger gene: AFF3 was added gene: AFF3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: AFF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AFF3 were set to 100000 Phenotypes for gene: AFF3 were set to Skeletal dysplasia with severe neurological disease Mode of pathogenicity for gene: AFF3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ADSL |
Rebecca Foulger gene: ADSL was added gene: ADSL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADSL were set to 10090474; 18830228; 6150139; 12016589; 9545543 Phenotypes for gene: ADSL were set to ADENYLOSUCCINASE DEFICIENCY 103050 Mode of pathogenicity for gene: ADSL was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ADRA2B |
Rebecca Foulger gene: ADRA2B was added gene: ADRA2B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ADRA2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADRA2B were set to 21937992 Phenotypes for gene: ADRA2B were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: ADRA2B was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ADK |
Rebecca Foulger gene: ADK was added gene: ADK was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ADK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADK were set to 21937992 Phenotypes for gene: ADK were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: ADK was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ADAMTS18 |
Rebecca Foulger gene: ADAMTS18 was added gene: ADAMTS18 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ADAMTS18 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS18 were set to 21862674 Phenotypes for gene: ADAMTS18 were set to KNOBLOCH SYNDROME 2 608454 Mode of pathogenicity for gene: ADAMTS18 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ACVR2B |
Rebecca Foulger gene: ACVR2B was added gene: ACVR2B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ACVR2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACVR2B were set to HETEROTAXY SYNDROME 207574 Mode of pathogenicity for gene: ACVR2B was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ACVR1 |
Rebecca Foulger gene: ACVR1 was added gene: ACVR1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACVR1 were set to 19330033; 16642017; 19085907; 18203193; 18830232 Phenotypes for gene: ACVR1 were set to FIBRODYSPLASIA OSSIFICANS PROGRESSIVA 135100 Mode of pathogenicity for gene: ACVR1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ACTL6B |
Rebecca Foulger gene: ACTL6B was added gene: ACTL6B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ACTL6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACTL6B were set to 28867141 Phenotypes for gene: ACTL6B were set to Unspecified Neurodevelopmental Disorder Mode of pathogenicity for gene: ACTL6B was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ACTG1 |
Rebecca Foulger gene: ACTG1 was added gene: ACTG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACTG1 were set to BARAITSER-WINTER SYNDROME Mode of pathogenicity for gene: ACTG1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ACTA2 |
Rebecca Foulger gene: ACTA2 was added gene: ACTA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACTA2 were set to MOYAMOYA DISEASE 5 614042 Mode of pathogenicity for gene: ACTA2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ACTA1 |
Rebecca Foulger gene: ACTA1 was added gene: ACTA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ACTA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACTA1 were set to 10508519 Phenotypes for gene: ACTA1 were set to NEMALINE MYOPATHY 3 Mode of pathogenicity for gene: ACTA1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ACADS |
Rebecca Foulger gene: ACADS was added gene: ACADS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADS were set to 2808706 Phenotypes for gene: ACADS were set to SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY 201470 Mode of pathogenicity for gene: ACADS was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ABL1 |
Rebecca Foulger gene: ABL1 was added gene: ABL1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ABL1 were set to 28288113 Phenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations Mode of pathogenicity for gene: ABL1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ABCC9 |
Rebecca Foulger gene: ABCC9 was added gene: ABCC9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ABCC9 were set to CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA 239850 Mode of pathogenicity for gene: ABCC9 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ABCB7 |
Rebecca Foulger gene: ABCB7 was added gene: ABCB7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ABCB7 were set to ANEMIA, SIDEROBLASTIC, WITH ATAXIA 301310 Mode of pathogenicity for gene: ABCB7 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ABCB6 |
Rebecca Foulger gene: ABCB6 was added gene: ABCB6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ABCB6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ABCB6 were set to 22226084 Phenotypes for gene: ABCB6 were set to MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 614497 Mode of pathogenicity for gene: ABCB6 was set to Other - please provide details in the comments |
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