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{
"count": 215348,
"next": "https://panelapp.genomicsengland.co.uk/api/v1/activities/?format=api&page=1775",
"previous": "https://panelapp.genomicsengland.co.uk/api/v1/activities/?format=api&page=1773",
"results": [
{
"created": "2018-11-19T11:07:35.286578Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MTOR was added\ngene: MTOR was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: MTOR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MTOR were set to 23934111\nPhenotypes for gene: MTOR were set to EPILEPTIC ENCEPHALOPATHY\nMode of pathogenicity for gene: MTOR was set to Other - please provide details in the comments",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:35.086877Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MTO1 was added\ngene: MTO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTO1 were set to 22608499\nPhenotypes for gene: MTO1 were set to INFANTILE HYPERTROPHIC CARDIOMYOPATHY AND LACTIC ACIDOSIS 614702",
"entity_name": "MTO1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:34.841347Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MTMR14 was added\ngene: MTMR14 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: MTMR14 was set to \nPhenotypes for gene: MTMR14 were set to CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF 160150\nMode of pathogenicity for gene: MTMR14 was set to Other - please provide details in the comments",
"entity_name": "MTMR14",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:34.632038Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MTM1 was added\ngene: MTM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: MTM1 were set to 12859411; 11552027; 12707446; 9450905; 7611280; 8640223; 10790201; 9285787\nPhenotypes for gene: MTM1 were set to MYOTUBULAR MYOPATHY, X-LINKED 310400",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:34.431075Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MTHFR was added\ngene: MTHFR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTHFR were set to METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY 236250",
"entity_name": "MTHFR",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:34.189601Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MTF1 was added\ngene: MTF1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: MTF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MTF1 were set to INTELLECTUAL DISABILITY",
"entity_name": "MTF1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:33.879311Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes CRANIOSYNOSTOSIS, TYPE 2 604757 for gene: MSX2",
"entity_name": "MSX2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:33.681097Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MSX2 was added\ngene: MSX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MSX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MSX2 were set to 14571277\nPhenotypes for gene: MSX2 were set to ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM 168550",
"entity_name": "MSX2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:33.432874Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MSX1 was added\ngene: MSX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MSX1 were set to 12807959; 15354328\nPhenotypes for gene: MSX1 were set to CLEFT LIP +/- CLEFT PALATE 608874",
"entity_name": "MSX1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:33.231394Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MSL3 was added\ngene: MSL3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MSL3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: MSL3 were set to 30224647\nPhenotypes for gene: MSL3 were set to MSL3 syndrome",
"entity_name": "MSL3",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:33.033353Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MSI1 was added\ngene: MSI1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: MSI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MSI1 were set to 28572454\nPhenotypes for gene: MSI1 were set to MSI1-associated Microcephaly\nMode of pathogenicity for gene: MSI1 was set to Other - please provide details in the comments",
"entity_name": "MSI1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:32.787059Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MRPS34 was added\ngene: MRPS34 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: MRPS34 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRPS34 were set to 28777931\nPhenotypes for gene: MRPS34 were set to Leigh Syndrome with Instability of the Small Mitoribosomal Subunit",
"entity_name": "MRPS34",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:32.591936Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MRPS22 was added\ngene: MRPS22 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRPS22 were set to 17873122\nPhenotypes for gene: MRPS22 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 611719\nMode of pathogenicity for gene: MRPS22 was set to Other - please provide details in the comments",
"entity_name": "MRPS22",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:32.393226Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MRE11 was added\ngene: MRE11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRE11 were set to 10612394\nPhenotypes for gene: MRE11 were set to ATAXIA TELANGIECTASIA-LIKE DISORDER 604391",
"entity_name": "MRE11",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:32.156346Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MPV17 was added\ngene: MPV17 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPV17 were set to 18695062; 16582910\nPhenotypes for gene: MPV17 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 6 256810",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:31.956067Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MPLKIP was added\ngene: MPLKIP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPLKIP were set to TRICHOTHIODYSTROPHY NON-PHOTOSENSITIVE TYPE 1 234050",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:31.763834Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MPI was added\ngene: MPI was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPI were set to 9585601; 9525984; 3080572\nPhenotypes for gene: MPI were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:31.531490Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MPDZ was added\ngene: MPDZ was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPDZ were set to 23240096\nPhenotypes for gene: MPDZ were set to HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2 615219",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:31.342417Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MPDU1 was added\ngene: MPDU1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPDU1 were set to 11733556; 11733564\nPhenotypes for gene: MPDU1 were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:31.132568Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MORC2 was added\ngene: MORC2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: MORC2 was set to \nPublications for gene: MORC2 were set to 26497905\nPhenotypes for gene: MORC2 were set to MORC2 - axonal neuropathy",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:30.887504Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MOGS was added\ngene: MOGS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MOGS were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379\nMode of pathogenicity for gene: MOGS was set to Other - please provide details in the comments",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:30.690951Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MOCS2 was added\ngene: MOCS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MOCS2 were set to MOLYBDENUM COFACTOR DEFICIENCY 603707",
"entity_name": "MOCS2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:30.485003Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MOCS1 was added\ngene: MOCS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MOCS1 were set to MOLYBDENUM COFACTOR DEFICIENCY 603707",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:30.229238Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MNX1 was added\ngene: MNX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MNX1 were set to 9843207; 15216552; 10631160; 16906559; 7550324\nPhenotypes for gene: MNX1 were set to CURRARINO SYNDROME 176450",
"entity_name": "MNX1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:30.034845Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MMP21 was added\ngene: MMP21 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MMP21 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMP21 were set to 26437028; 26437029; 26429889\nPhenotypes for gene: MMP21 were set to MMP21-associated heterotaxy",
"entity_name": "MMP21",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:29.782770Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MMP14 was added\ngene: MMP14 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: MMP14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMP14 were set to 22922033\nPhenotypes for gene: MMP14 were set to WINCHESTER SYNDROME\nMode of pathogenicity for gene: MMP14 was set to Other - please provide details in the comments",
"entity_name": "MMP14",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:29.405956Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes METAPHYSEAL ANADYSPLASIA TYPE 1 602111 for gene: MMP13",
"entity_name": "MMP13",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:29.214554Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MMP13 was added\ngene: MMP13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MMP13 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: MMP13 were set to 8412645; 19615667\nPhenotypes for gene: MMP13 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE 602111\nMode of pathogenicity for gene: MMP13 was set to Other - please provide details in the comments",
"entity_name": "MMP13",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:28.977243Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MMADHC was added\ngene: MMADHC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMADHC were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD 277410",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:28.788268Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MMACHC was added\ngene: MMACHC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMACHC were set to 16311595; 16714133; 11320193; 20631720\nPhenotypes for gene: MMACHC were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE 277400",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:28.594879Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MMAB was added\ngene: MMAB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMAB were set to 12471062\nPhenotypes for gene: MMAB were set to METHYLMALONIC ACIDURIA TYPE CBLB 251110",
"entity_name": "MMAB",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:28.361153Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MMAA was added\ngene: MMAA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMAA were set to 12438653\nPhenotypes for gene: MMAA were set to METHYLMALONIC ACIDURIA TYPE CBLA 251100",
"entity_name": "MMAA",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:28.165682Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MLYCD was added\ngene: MLYCD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MLYCD were set to MALONYL-COA DECARBOXYLASE DEFICIENCY 167676",
"entity_name": "MLYCD",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:27.969682Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MLC1 was added\ngene: MLC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MLC1 were set to 11254442; 12189496; 14615938; 11935341; 21624973\nPhenotypes for gene: MLC1 were set to LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS 604004",
"entity_name": "MLC1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:27.630566Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes BARDET-BIEDL SYNDROME TYPE 13 209900 for gene: MKS1",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:27.437940Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MKS1 was added\ngene: MKS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MKS1 were set to 17377820; 16415886\nPhenotypes for gene: MKS1 were set to MECKEL SYNDROME TYPE 1 249000",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:27.091648Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes BARDET-BIEDL SYNDROME TYPE 6 209900 for gene: MKKS",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:26.899922Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MKKS was added\ngene: MKKS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MKKS were set to 10802661\nPhenotypes for gene: MKKS were set to MCKUSICK-KAUFMAN SYNDROME 236700",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:26.597939Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness for gene: MITF\nPublications for gene MITF were changed from 8490648; 8589691; 7874167; 9856573 to 27889061",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:26.244953Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes WAARDENBURG SYNDROME TYPE 2A 193510 for gene: MITF\nPublications for gene MITF were changed from 8589691; 10851256 to 8490648; 8589691; 7874167; 9856573",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:25.921571Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes TIETZ SYNDROME 103500 for gene: MITF\nPublications for gene MITF were changed from 9158138 to 8589691; 10851256",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:25.678861Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MITF was added\ngene: MITF was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: MITF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: MITF were set to 9158138\nPhenotypes for gene: MITF were set to WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM 103470",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:25.491007Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MIR184 was added\ngene: MIR184 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: MIR184 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MIR184 were set to 21996275\nPhenotypes for gene: MIR184 were set to EDICT SYNDROME 614303; KERATOCONUS WITH CATARACT\nMode of pathogenicity for gene: MIR184 was set to Other - please provide details in the comments",
"entity_name": "MIR184",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:25.300672Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MIR17HG was added\ngene: MIR17HG was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: MIR17HG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MIR17HG were set to 21892160\nPhenotypes for gene: MIR17HG were set to FEINGOLD SYNDROME 614326",
"entity_name": "MIR17HG",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:25.077430Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MID1 was added\ngene: MID1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MID1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: MID1 were set to 17221865; 12545276; 15558842\nPhenotypes for gene: MID1 were set to OPITZ G/BBB SYNDROME, X-LINKED 300000",
"entity_name": "MID1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:24.873184Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MICU1 was added\ngene: MICU1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MICU1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MICU1 were set to 24336167\nPhenotypes for gene: MICU1 were set to MYOPATHY WITH EXTRAPYRAMIDAL SIGNS 615673",
"entity_name": "MICU1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:24.685794Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MGP was added\ngene: MGP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MGP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MGP were set to 9916809; 15810001\nPhenotypes for gene: MGP were set to KEUTEL SYNDROME 245150",
"entity_name": "MGP",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:24.449915Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MGAT2 was added\ngene: MGAT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MGAT2 were set to 11228641; 20684000; 8808595\nPhenotypes for gene: MGAT2 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A 212066",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:24.261858Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MFSD8 was added\ngene: MFSD8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MFSD8 were set to MFSD8-RELATED NEURONAL CEROID-LIPOFUSCINOSIS 610951",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:24.066912Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MFSD2A was added\ngene: MFSD2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MFSD2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MFSD2A were set to 26005865\nPhenotypes for gene: MFSD2A were set to MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 616486\nMode of pathogenicity for gene: MFSD2A was set to Other - please provide details in the comments",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:23.734363Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes MICROPHTHALMIA ISOLATED TYPE 5 611040 for gene: MFRP\nPublications for gene MFRP were changed from 1258954; 15976030 to 17167404",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:23.548859Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MFRP was added\ngene: MFRP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MFRP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MFRP were set to 1258954; 15976030\nPhenotypes for gene: MFRP were set to NANOPHTHALMOS 2 609549",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:23.315460Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MESP2 was added\ngene: MESP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MESP2 were set to 18485326; 15122512\nPhenotypes for gene: MESP2 were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 2 608681",
"entity_name": "MESP2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:23.130197Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MEOX1 was added\ngene: MEOX1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: MEOX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MEOX1 were set to KLIPPEL-FEIL ANOMALY 118100",
"entity_name": "MEOX1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:22.942859Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MEGF8 was added\ngene: MEGF8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MEGF8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MEGF8 were set to CARPENTER SYNDROME 201000",
"entity_name": "MEGF8",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:22.703175Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MEGF10 was added\ngene: MEGF10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MEGF10 were set to 22101682; 17236770; 22371254\nPhenotypes for gene: MEGF10 were set to MYOPATHY, EARLY-ONSET, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA 614399",
"entity_name": "MEGF10",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:22.505209Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MEF2C was added\ngene: MEF2C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MEF2C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MEF2C were set to 20513142; 23001426; 19592390\nPhenotypes for gene: MEF2C were set to MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS 613443",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:22.300311Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MED23 was added\ngene: MED23 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: MED23 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MED23 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 18 614249\nMode of pathogenicity for gene: MED23 was set to Other - please provide details in the comments",
"entity_name": "MED23",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:22.072310Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MED17 was added\ngene: MED17 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: MED17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MED17 were set to 20950787\nPhenotypes for gene: MED17 were set to MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY 613668\nMode of pathogenicity for gene: MED17 was set to Other - please provide details in the comments",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:21.824257Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MED13L was added\ngene: MED13L was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MED13L were set to 23403903\nPhenotypes for gene: MED13L were set to INTELLECTUAL DISABILITY",
"entity_name": "MED13L",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:21.521684Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes LUJAN-FRYNS SYNDROME 309520 for gene: MED12\nPublications for gene MED12 were changed from 17334363 to 6711603",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:21.287634Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MED12 was added\ngene: MED12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: MED12 were set to 17334363\nPhenotypes for gene: MED12 were set to OPITZ-KAVEGGIA SYNDROME 305450\nMode of pathogenicity for gene: MED12 was set to Other - please provide details in the comments",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:21.100050Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MECR was added\ngene: MECR was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: MECR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MECR were set to 27817865\nPhenotypes for gene: MECR were set to Childhood-Onset Dystonia and Optic Atrophy",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:20.801578Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS 300673 for gene: MECP2\nPublications for gene MECP2 were changed from 29618507 to 11402105; 11238684",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:20.450464Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes CHROMOSOME XQ28 DUPLICATION SYNDROME 300815 for gene: MECP2\nPublications for gene MECP2 were changed from 9377804; 12615169; 16966553; 10232754; 11007980; 11807877 to 29618507",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:20.098679Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13 300055 for gene: MECP2\nPublications for gene MECP2 were changed from 15689435 to 9377804; 12615169; 16966553; 10232754; 11007980; 11807877",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:19.790440Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE 300260 for gene: MECP2\nPublications for gene MECP2 were changed from 15034579; 10577905; 16630165; 10508514; 19034540; 5300597; 11313756; 18989701; 12481990; 10767337; 11214906; 11022934; 11930274; 10814718; 15857422; 10854091 to 15689435",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:19.596593Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MECP2 was added\ngene: MECP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: MECP2 were set to 15034579; 10577905; 16630165; 10508514; 19034540; 5300597; 11313756; 18989701; 12481990; 10767337; 11214906; 11022934; 11930274; 10814718; 15857422; 10854091\nPhenotypes for gene: MECP2 were set to RETT SYNDROME (RTT)[ 312750",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:19.341378Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MECOM was added\ngene: MECOM was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MECOM were set to 26581901\nPhenotypes for gene: MECOM were set to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia\nMode of pathogenicity for gene: MECOM was set to Other - please provide details in the comments",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:19.152087Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MDH2 was added\ngene: MDH2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: MDH2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MDH2 were set to 27989324\nPhenotypes for gene: MDH2 were set to Early-Onset Severe Encephalopathy",
"entity_name": "MDH2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:18.966032Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MCPH1 was added\ngene: MCPH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCPH1 were set to 12046007; 7693575; 11857108; 16311745; 20978018\nPhenotypes for gene: MCPH1 were set to MICROCEPHALY PRIMARY TYPE 1 251200",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:18.723927Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MCOLN1 was added\ngene: MCOLN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCOLN1 were set to 10441585; 15523648; 17239335; 10973263; 11030752\nPhenotypes for gene: MCOLN1 were set to MUCOLIPIDOSIS IV 252650",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:18.536313Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MCEE was added\ngene: MCEE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCEE were set to 16752391\nPhenotypes for gene: MCEE were set to METHYLMALONYL-COA EPIMERASE DEFICIENCY 251120",
"entity_name": "MCEE",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:18.347130Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MCCC2 was added\ngene: MCCC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCCC2 were set to 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY 210210",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:18.114897Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MCCC1 was added\ngene: MCCC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCCC1 were set to 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY 210200",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:17.925688Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MC2R was added\ngene: MC2R was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MC2R were set to 8227361; 18407210; 12213892; 18492762; 8636348; 8094489\nPhenotypes for gene: MC2R were set to GLUCOCORTICOID DEFICIENCY 1 202200",
"entity_name": "MC2R",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:17.738313Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MBOAT7 was added\ngene: MBOAT7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: MBOAT7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MBOAT7 were set to 27616480\nPhenotypes for gene: MBOAT7 were set to Intellectual Disability Accompanied by Epilepsy and Autistic Features",
"entity_name": "MBOAT7",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:17.508771Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MBD5 was added\ngene: MBD5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: MBD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MBD5 were set to EHMT1-LIKE INTELLECTUAL DISABILITY",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:17.318621Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MATN3 was added\ngene: MATN3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MATN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MATN3 were set to 15948199; 11479597; 13849708; 14729835\nPhenotypes for gene: MATN3 were set to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5 607078\nMode of pathogenicity for gene: MATN3 was set to Other - please provide details in the comments",
"entity_name": "MATN3",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:17.085312Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MAT1A was added\ngene: MAT1A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: MAT1A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAT1A were set to 8770875; 1527987; 10677294; 7560086; 7229751; 3812486; 1683972; 4421454\nPhenotypes for gene: MAT1A were set to METHIONINE ADENOSYLTRANSFERASE DEFICIENCY 250850",
"entity_name": "MAT1A",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:16.870411Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MASP1 was added\ngene: MASP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MASP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MASP1 were set to 17937425; 21258343; 21035106\nPhenotypes for gene: MASP1 were set to 3MC SYNDROME 1 257920",
"entity_name": "MASP1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:16.640179Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MAPRE2 was added\ngene: MAPRE2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MAPRE2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAPRE2 were set to 26637975\nPhenotypes for gene: MAPRE2 were set to Circumferential Skin Creases Kunze Type\nMode of pathogenicity for gene: MAPRE2 was set to Other - please provide details in the comments",
"entity_name": "MAPRE2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:16.449788Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MAPK10 was added\ngene: MAPK10 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: MAPK10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MAPK10 were set to EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE 606369",
"entity_name": "MAPK10",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:16.098614Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes FRONTOMETAPHYSEAL DYSPLASIA 305620 for gene: MAP3K7\nPublications for gene MAP3K7 were changed from 27426734 to 27426734; 27426733",
"entity_name": "MAP3K7",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:15.907969Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MAP3K7 was added\ngene: MAP3K7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: MAP3K7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MAP3K7 were set to 27426734\nPhenotypes for gene: MAP3K7 were set to Cardiospondylocarpofacial syndrome\nMode of pathogenicity for gene: MAP3K7 was set to Other - please provide details in the comments",
"entity_name": "MAP3K7",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:15.714838Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MAP3K1 was added\ngene: MAP3K1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MAP3K1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MAP3K1 were set to 5419329; 21129722; 12476449\nPhenotypes for gene: MAP3K1 were set to 46XY SEX REVERSAL 6 613762",
"entity_name": "MAP3K1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:15.528036Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MAP2K2 was added\ngene: MAP2K2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MAP2K2 were set to CARDIOFACIOCUTANEOUS SYNDROME 115150\nMode of pathogenicity for gene: MAP2K2 was set to Other - please provide details in the comments",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:15.301582Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MAP2K1 was added\ngene: MAP2K1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MAP2K1 were set to CARDIOFACIOCUTANEOUS SYNDROME 115150\nMode of pathogenicity for gene: MAP2K1 was set to Other - please provide details in the comments",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:15.111676Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MAOA was added\ngene: MAOA was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: MAOA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: MAOA were set to 24169519\nPhenotypes for gene: MAOA were set to BRUNNER SYNDROME 300615",
"entity_name": "MAOA",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:14.922345Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MANBA was added\ngene: MANBA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MANBA were set to 16401745; 12890191; 3762648; 1499588; 2079835; 1623631\nPhenotypes for gene: MANBA were set to LYSOSOMAL BETA-MANNOSIDOSIS 248510",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:14.685498Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MAN2B1 was added\ngene: MAN2B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAN2B1 were set to 22161967; 4358183; 9158146; 9758606\nPhenotypes for gene: MAN2B1 were set to LYSOSOMAL ALPHA-MANNOSIDOSIS 248500",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:14.502852Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MAN1B1 was added\ngene: MAN1B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: MAN1B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAN1B1 were set to 26577042; 24348268; 21763484; 24566669; 26279649; 21937992\nPhenotypes for gene: MAN1B1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION\nMode of pathogenicity for gene: MAN1B1 was set to Other - please provide details in the comments",
"entity_name": "MAN1B1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:14.315294Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MAMLD1 was added\ngene: MAMLD1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: MAMLD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: MAMLD1 were set to 17086185\nPhenotypes for gene: MAMLD1 were set to X-LINKED HYPOSPADIAS TYPE 2 300758",
"entity_name": "MAMLD1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:14.089467Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MAGT1 was added\ngene: MAGT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: MAGT1 were set to 18455129\nPhenotypes for gene: MAGT1 were set to MENTAL RETARDATION X-LINKED TYPE 95 300716",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:13.905439Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MAGI2 was added\ngene: MAGI2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: MAGI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MAGI2 were set to 18565486\nPhenotypes for gene: MAGI2 were set to EARLY ONSET EPILEPTIC ENCEPHALOPATHY",
"entity_name": "MAGI2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:13.622274Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes ARTHROGRYPOSIS MULTIPLEX CONGENITA for gene: MAGEL2\nPublications for gene MAGEL2 were changed from 27195816; 24076603 to 26365340",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:13.396892Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MAGEL2 was added\ngene: MAGEL2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: MAGEL2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)\nPublications for gene: MAGEL2 were set to 27195816; 24076603\nPhenotypes for gene: MAGEL2 were set to Schaaf-Yang syndrome",
"entity_name": "MAGEL2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:13.109352Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects for gene: MAFB\nPublications for gene MAFB were changed from 22387013 to 27181683",
"entity_name": "MAFB",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:12.884233Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MAFB was added\ngene: MAFB was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MAFB were set to 22387013\nPhenotypes for gene: MAFB were set to MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME 166300",
"entity_name": "MAFB",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:07:12.589112Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes CATARACT CONGENITAL CERULEAN TYPE 4 610202 for gene: MAF",
"entity_name": "MAF",
"entity_type": "gene"
}
]
}