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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=452",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=450",
"results": [
{
"created": "2024-05-20T19:15:21.445321+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: ZNF41.",
"entity_name": "ZNF41",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:14:52.705364+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: ZNF674.",
"entity_name": "ZNF674",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:14:30.831541+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF81 were changed from Intellectual disability to X-linked intellectual disability MONDO:0100284",
"entity_name": "ZNF81",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:13:23.717100+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHANK2 as ready",
"entity_name": "SHANK2",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:13:23.706187+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shank2 has been classified as Green List (High Evidence).",
"entity_name": "SHANK2",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:13:18.268026+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHANK2 were changed from to Autism, susceptibility to, 17, MIM#613436; complex neurodevelopmental disorder MONDO:0100038",
"entity_name": "SHANK2",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:12:48.043401+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SHANK2 were set to ",
"entity_name": "SHANK2",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:12:09.599897+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5822",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SHANK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHANK2",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:11:25.901950+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SHANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHANK2",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:09:29.993906+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AASS as ready",
"entity_name": "AASS",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:09:29.979862+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aass has been classified as Green List (High Evidence).",
"entity_name": "AASS",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:09:14.328555+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AASS were set to 23890588, 10775527, 27604308, 23570448; 35135854",
"entity_name": "AASS",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:08:53.966398+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AASS as Green List (high evidence)",
"entity_name": "AASS",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:08:53.957807+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aass has been classified as Green List (High Evidence).",
"entity_name": "AASS",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:08:32.324245+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACSF3 as ready",
"entity_name": "ACSF3",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:08:32.310985+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acsf3 has been classified as Green List (High Evidence).",
"entity_name": "ACSF3",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:07:58.967942+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACSF3 as Green List (high evidence)",
"entity_name": "ACSF3",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:07:58.953609+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acsf3 has been classified as Green List (High Evidence).",
"entity_name": "ACSF3",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:07:32.439520+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYN1 as ready",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:07:32.422923+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syn1 has been classified as Green List (High Evidence).",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:04:25.739536+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYN1 were changed from to Epilepsy, X-linked, with variable learning disabilities and behaviour disorders, MIM# 300491; Intellectual developmental disorder, X-linked 50, MIM# 300115",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2024-05-20T16:42:54.259517+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.6",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: ACSF3 was added\ngene: ACSF3 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACSF3 were set to 21785126, 26915364, 30740739, 26827111, 27604308, 21841779\nPhenotypes for gene: ACSF3 were set to combined malonic and methylmalonic acidemia MONDO:0013661\nReview for gene: ACSF3 was set to GREEN\nAdded comment: Established gene disease association with reported individuals showing evidence of biochemical abnormalities however some individuals do not show any other phenotypic abnormalities. \r\nLoF is the mechanism of disease.\r\n\r\nDefinitive classification by ClinGen Aminoacidopathy GCEP on 09/10/2020 - https://search.clinicalgenome.org/CCID:004033 \nSources: ClinGen",
"entity_name": "ACSF3",
"entity_type": "gene"
},
{
"created": "2024-05-20T16:03:39.451848+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.6",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: AASS was added\ngene: AASS was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: AASS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AASS were set to 23890588, 10775527, 27604308, 23570448; 35135854\nPhenotypes for gene: AASS were set to hyperlysinemia MONDO:0009388\nReview for gene: AASS was set to GREEN\nAdded comment: Reported in individuals with affected biochemical function. Knock-in mouse model was also conducted to recapitulate the human phenotype (PMID: 35135854). \r\n\r\nDefinitive classification by ClinGen Aminoacidopathy GCEP on 14/10/2022 - https://search.clinicalgenome.org/CCID:004004 \nSources: ClinGen",
"entity_name": "AASS",
"entity_type": "gene"
},
{
"created": "2024-05-20T15:47:52.274937+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Aaron Meyers",
"item_type": "entity",
"text": "reviewed gene: SHANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20473310, 22346768, 20531469, 35456494, 32987185, 25188300, 22699619, 22699620; Phenotypes: Autism, susceptibility to, 17, MIM#613436, Autism spectrum disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHANK2",
"entity_type": "gene"
},
{
"created": "2024-05-20T14:12:14.968048+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: ZNF81: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006590; Phenotypes: X-linked intellectual disability MONDO:0100284; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ZNF81",
"entity_type": "gene"
},
{
"created": "2024-05-20T14:10:45.954374+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: ZNF674: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006588; Phenotypes: X-linked intellectual disability MONDO:0100284; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ZNF674",
"entity_type": "gene"
},
{
"created": "2024-05-20T14:02:35.965624+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: ZNF41: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006585; Phenotypes: non-syndromic X-linked intellectual disability MONDO:0019181; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ZNF41",
"entity_type": "gene"
},
{
"created": "2024-05-20T13:37:57.285016+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: ZDHHC15: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006573; Phenotypes: X-linked complex neurodevelopmental disorder MONDO:0100148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ZDHHC15",
"entity_type": "gene"
},
{
"created": "2024-05-20T12:46:54.500359+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: WAC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26757981, https://search.clinicalgenome.org/CCID:006532; Phenotypes: DeSanto-Shinawi syndrome MONDO:0018760; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "WAC",
"entity_type": "gene"
},
{
"created": "2024-05-20T12:11:32.465146+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: TCF7L2: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006339; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TCF7L2",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:45:31.160140+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC6A9 was added\ngene: SLC6A9 was added to Neurotransmitter Defects. Sources: Expert Review Green\nMode of inheritance for gene: SLC6A9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC6A9 were set to 27481395; 27773429; 14622582; 33269555\nPhenotypes for gene: SLC6A9 were set to Atypical glycine encephalopathy MONDO:0015010; Glycine neurotransmitter disorders",
"entity_name": "SLC6A9",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:45:30.934427+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GRM1 was added\ngene: GRM1 was added to Neurotransmitter Defects. Sources: Expert Review Green\nMode of inheritance for gene: GRM1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: GRM1 were set to 26308914; 31319223; 22901947\nPhenotypes for gene: GRM1 were set to Cerebellar ataxia MONDO:0000437; Glutamate neurotransmitter disorders",
"entity_name": "GRM1",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:45:30.651609+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GRIA4 was added\ngene: GRIA4 was added to Neurotransmitter Defects. Sources: Expert Review Green\nMode of inheritance for gene: GRIA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GRIA4 were set to 35518358; 29220673\nPhenotypes for gene: GRIA4 were set to Glutamate neurotransmitter disorders; Neurodevelopmental disorder with or without seizures and gait abnormalities MONDO:0060641",
"entity_name": "GRIA4",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:45:30.415327+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GRIA3 was added\ngene: GRIA3 was added to Neurotransmitter Defects. Sources: Expert Review Green\nMode of inheritance for gene: GRIA3 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: GRIA3 were set to 38038360\nPhenotypes for gene: GRIA3 were set to Glutamate neurotransmitter disorders; X-linked complex neurodevelopmental disorder MONDO:0100148",
"entity_name": "GRIA3",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:45:30.013301+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GRIN2D was added\ngene: GRIN2D was added to Neurotransmitter Defects. Sources: Expert Review Green\nMode of inheritance for gene: GRIN2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GRIN2D were set to 30280376; 27616483\nPhenotypes for gene: GRIN2D were set to Glutamate neurotransmitter disorders; Complex neurodevelopmental disorder MONDO:0100038",
"entity_name": "GRIN2D",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:45:29.798097+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GRIN2B was added\ngene: GRIN2B was added to Neurotransmitter Defects. Sources: Expert Review Green\nMode of inheritance for gene: GRIN2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GRIN2B were set to 28377535\nPhenotypes for gene: GRIN2B were set to Glutamate neurotransmitter disorders; Complex neurodevelopmental disorder MONDO:0100038",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:45:29.487639+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GRIN2A was added\ngene: GRIN2A was added to Neurotransmitter Defects. Sources: Expert Review Green\nMode of inheritance for gene: GRIN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GRIN2A were set to 30544257\nPhenotypes for gene: GRIN2A were set to Glutamate neurotransmitter disorders; Complex neurodevelopmental disorder MONDO:0100038",
"entity_name": "GRIN2A",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:45:29.268157+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GRIN1 was added\ngene: GRIN1 was added to Neurotransmitter Defects. Sources: Expert Review Green\nMode of inheritance for gene: GRIN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: GRIN1 were set to 29365063; 27164704; 28051072\nPhenotypes for gene: GRIN1 were set to Glutamate neurotransmitter disorders; Complex neurodevelopmental disorder MONDO:0100038",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:45:29.039023+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GABBR2 was added\ngene: GABBR2 was added to Neurotransmitter Defects. Sources: Expert Review Green\nMode of inheritance for gene: GABBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GABBR2 were set to 35850019\nPhenotypes for gene: GABBR2 were set to Developmental and epileptic encephalopathy, 59 MONDO:0033368; Gamma-aminobutyric acid neurotransmitter disorders",
"entity_name": "GABBR2",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:45:28.825279+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC6A1 was added\ngene: SLC6A1 was added to Neurotransmitter Defects. Sources: Expert Review Green\nMode of inheritance for gene: SLC6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC6A1 were set to 34028503\nPhenotypes for gene: SLC6A1 were set to Myoclonic-atonic epilepsy MONDO:0014633",
"entity_name": "SLC6A1",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:45:28.579090+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GABRB2 was added\ngene: GABRB2 was added to Neurotransmitter Defects. Sources: Expert Review Green\nMode of inheritance for gene: GABRB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GABRB2 were set to 27789573; 35850019; 29100083\nPhenotypes for gene: GABRB2 were set to Epileptic encephalopathy, infantile or early childhood, 2 MONDO:0020631; Gamma-aminobutyric acid neurotransmitter disorders",
"entity_name": "GABRB2",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:45:28.336826+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GABRB1 was added\ngene: GABRB1 was added to Neurotransmitter Defects. Sources: Expert Review Green\nMode of inheritance for gene: GABRB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GABRB1 were set to 23934111; 27273810; 35850019; 31618474\nPhenotypes for gene: GABRB1 were set to Developmental and epileptic encephalopathy, 45 MONDO:0014942; Gamma-aminobutyric acid neurotransmitter disorders",
"entity_name": "GABRB1",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:41:44.753756+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.923",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TMEM126A was added\ngene: TMEM126A was added to Mitochondrial disease. Sources: Expert Review Green\nMode of inheritance for gene: TMEM126A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM126A were set to 29884839; 33879611\nPhenotypes for gene: TMEM126A were set to Disorders of complex I subunits and assembly factors; autosomal recessive optic atrophy, OPA7 type MONDO:0013069",
"entity_name": "TMEM126A",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:41:44.341361+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.923",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: VCP was added\ngene: VCP was added to Mitochondrial disease. Sources: Expert Review Green\nMode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: VCP were set to 29884839; 35273561; 37678339\nPhenotypes for gene: VCP were set to inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0000507; Disorders of mitochondrial protein quality control",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:41:43.939967+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.923",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRKN was added\ngene: PRKN was added to Mitochondrial disease. Sources: Expert Review Green\nMode of inheritance for gene: PRKN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRKN were set to 29884839; 38069350\nPhenotypes for gene: PRKN were set to Disorders of mitochondrial protein quality control; Parkinson disease MONDO:0005180",
"entity_name": "PRKN",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:41:43.552392+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.923",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HSPA9 was added\ngene: HSPA9 was added to Mitochondrial disease. Sources: Expert Review Green\nMode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HSPA9 were set to 29884839; 21123823; 26598328\nPhenotypes for gene: HSPA9 were set to even-plus syndrome MONDO:0014801; Disorders of mitochondrial protein quality control",
"entity_name": "HSPA9",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:41:43.142222+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.923",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PAM16 was added\ngene: PAM16 was added to Mitochondrial disease. Sources: Expert Review Green\nMode of inheritance for gene: PAM16 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PAM16 were set to 29884839; 24786642; 35385740; 36438081\nPhenotypes for gene: PAM16 were set to autosomal recessive spondylometaphyseal dysplasia, Megarbane type MONDO:0013223; Disorders of mitochondrial protein import",
"entity_name": "PAM16",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:41:42.680994+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.923",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PTRH2 was added\ngene: PTRH2 was added to Mitochondrial disease. Sources: Expert Review Green\nMode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTRH2 were set to 29884839; 37239392\nPhenotypes for gene: PTRH2 were set to Miscellaneous disorders associated with mitochondrial dysfunction; neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:8000012",
"entity_name": "PTRH2",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:41:42.252847+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.923",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RMRP was added\ngene: RMRP was added to Mitochondrial disease. Sources: Expert Review Green\nMode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RMRP were set to 29884839; 38337186\nPhenotypes for gene: RMRP were set to Disorders of ribosomal biogenesis; cartilage-hair hypoplasia MONDO:0009595",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:41:41.760807+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.923",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SDHC was added\ngene: SDHC was added to Mitochondrial disease. Sources: Expert Review Red\nMode of inheritance for gene: SDHC was set to Unknown\nPublications for gene: SDHC were set to 31469588; 29884839\nPhenotypes for gene: SDHC were set to Mitochondrial disease MONDO:0044970",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:41:41.341234+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.923",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GPD1 was added\ngene: GPD1 was added to Mitochondrial disease. Sources: Expert Review Green\nMode of inheritance for gene: GPD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPD1 were set to 29884839; 35988808; 24549054\nPhenotypes for gene: GPD1 were set to Disorders of mitochondrial shuttles and carriers; transient infantile hypertriglyceridemia and hepatosteatosis MONDO:0013771",
"entity_name": "GPD1",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:41:40.869233+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.923",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: L2HGDH was added\ngene: L2HGDH was added to Mitochondrial disease. Sources: Expert Review Green\nMode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: L2HGDH were set to 29884839; 37995940\nPhenotypes for gene: L2HGDH were set to Disorders of mitochondrial metabolite repair; L-2-hydroxyglutaric aciduria MONDO:0009370",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:38:11.587448+10:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KCNJ10 was added\ngene: KCNJ10 was added to Metal Metabolism Disorders. Sources: Expert Review Green\nMode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KCNJ10 were set to 19289823, 21849804, 11466414\nPhenotypes for gene: KCNJ10 were set to EAST syndrome MONDO:0013005, SESAME syndrome, MIM# 612780; Disorders of magnesium metabolism",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:38:11.262602+10:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC12A3 was added\ngene: SLC12A3 was added to Metal Metabolism Disorders. Sources: Expert Review Green\nMode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC12A3 were set to 34604137, 35170241\nPhenotypes for gene: SLC12A3 were set to Disorders of magnesium metabolism; Gitelman syndrome MONDO:0009904",
"entity_name": "SLC12A3",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:38:10.974918+10:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CNNM2 was added\ngene: CNNM2 was added to Metal Metabolism Disorders. Sources: Expert Review Green\nMode of inheritance for gene: CNNM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: CNNM2 were set to 34604137, 35170241\nPhenotypes for gene: CNNM2 were set to renal hypomagnesemia 6 MONDO:0013480; Disorders of magnesium metabolism",
"entity_name": "CNNM2",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:38:10.778551+10:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CLDN19 was added\ngene: CLDN19 was added to Metal Metabolism Disorders. Sources: Expert Review Green\nMode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLDN19 were set to 17033971, 22422540, 27530400\nPhenotypes for gene: CLDN19 were set to Disorders of magnesium metabolism; renal hypomagnesemia 5 with ocular involvement MONDO:0009548",
"entity_name": "CLDN19",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:38:10.537968+10:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CLDN16 was added\ngene: CLDN16 was added to Metal Metabolism Disorders. Sources: Expert Review Green\nMode of inheritance for gene: CLDN16 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLDN16 were set to 26426912, 16501001, 10878661\nPhenotypes for gene: CLDN16 were set to Disorders of magnesium metabolism; renal hypomagnesemia 3 MONDO:0009550",
"entity_name": "CLDN16",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:38:10.059664+10:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CLDN10 was added\ngene: CLDN10 was added to Metal Metabolism Disorders. Sources: Expert Review Green\nMode of inheritance for gene: CLDN10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLDN10 were set to 28686597\nPhenotypes for gene: CLDN10 were set to Disorders of magnesium metabolism; HELIX syndrome MONDO:0060564",
"entity_name": "CLDN10",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:38:09.853389+10:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FXYD2 was added\ngene: FXYD2 was added to Metal Metabolism Disorders. Sources: Expert Review Amber\nMode of inheritance for gene: FXYD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FXYD2 were set to 17980699, 12763862, 18448590, 11062458, 25765846, 27014088\nPhenotypes for gene: FXYD2 were set to Renal hypomagnesemia 2 MONDO:0007937, Disorders of magnesium metabolism",
"entity_name": "FXYD2",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:38:09.702621+10:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TRPM6 was added\ngene: TRPM6 was added to Metal Metabolism Disorders. Sources: Expert Review Green\nMode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRPM6 were set to 23942199\nPhenotypes for gene: TRPM6 were set to Hypomagnesemia 1, intestinal MONDO:0011176, Disorders of magnesium metabolism",
"entity_name": "TRPM6",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:38:09.568361+10:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SEPSECS was added\ngene: SEPSECS was added to Metal Metabolism Disorders. Sources: Expert Review Green\nMode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SEPSECS were set to 20920667, 25044680, 31748115, 29464431\nPhenotypes for gene: SEPSECS were set to pontocerebellar hypoplasia type 2D MONDO:0013438; Other disorders of trace element metabolism",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:38:09.423341+10:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SECISBP2 was added\ngene: SECISBP2 was added to Metal Metabolism Disorders. Sources: Expert Review Green\nMode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SECISBP2 were set to 16228000, 19602558, 21084748, 22247018\nPhenotypes for gene: SECISBP2 were set to thyroid hormone metabolism, abnormal 1 MONDO:0800046; Other disorders of trace element metabolism",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:38:09.273440+10:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC30A9 was added\ngene: SLC30A9 was added to Metal Metabolism Disorders. Sources: Expert Review Green\nMode of inheritance for gene: SLC30A9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC30A9 were set to 37041080\nPhenotypes for gene: SLC30A9 were set to Birk-Landau-Perez syndrome (MIM#617595); Disorders of zinc metabolism",
"entity_name": "SLC30A9",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:38:09.131610+10:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC39A13 was added\ngene: SLC39A13 was added to Metal Metabolism Disorders. Sources: Expert Review Green\nMode of inheritance for gene: SLC39A13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC39A13 were set to 18985159, 18513683\nPhenotypes for gene: SLC39A13 were set to Ehlers-Danlos syndrome, spondylocheirodysplastic type MONDO:0012873; Disorders of zinc metabolism",
"entity_name": "SLC39A13",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:38:08.973419+10:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC30A2 was added\ngene: SLC30A2 was added to Metal Metabolism Disorders. Sources: Expert Review Green\nMode of inheritance for gene: SLC30A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC30A2 were set to 17065149, 22733820, 32278324, 30450693, 28665435\nPhenotypes for gene: SLC30A2 were set to Zinc deficiency, transient neonatal , MIM#608118; Disorders of zinc metabolism",
"entity_name": "SLC30A2",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:38:08.826750+10:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC39A4 was added\ngene: SLC39A4 was added to Metal Metabolism Disorders. Sources: Expert Review Green\nMode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC39A4 were set to 19370757\nPhenotypes for gene: SLC39A4 were set to acrodermatitis enteropathica MONDO:0008713; Disorders of zinc metabolism",
"entity_name": "SLC39A4",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:38:08.648622+10:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC39A8 was added\ngene: SLC39A8 was added to Metal Metabolism Disorders. Sources: Expert Review Green\nMode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC39A8 were set to 26637978, 26637979\nPhenotypes for gene: SLC39A8 were set to SLC39A8-CDG MONDO:0014746; Other disorders of trace element metabolism",
"entity_name": "SLC39A8",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:38:08.487141+10:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC39A14 was added\ngene: SLC39A14 was added to Metal Metabolism Disorders. Sources: Expert Review Green\nMode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC39A14 were set to 27231142, 29685658\nPhenotypes for gene: SLC39A14 were set to hypermanganesemia with dystonia 2 MONDO:0014864; Disorders of magnesium metabolism",
"entity_name": "SLC39A14",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:38:08.338638+10:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC30A10 was added\ngene: SLC30A10 was added to Metal Metabolism Disorders. Sources: Expert Review Green\nMode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC30A10 were set to 22341972, 22341971, 29193034\nPhenotypes for gene: SLC30A10 were set to hypermanganesemia syndrome MONDO:0013208; Disorders of magnesium metabolism",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:38:08.152425+10:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TFRC was added\ngene: TFRC was added to Metal Metabolism Disorders. Sources: Expert Review Amber\nMode of inheritance for gene: TFRC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TFRC were set to 26642240\nPhenotypes for gene: TFRC were set to Disorders of iron metabolism; TFRC-related combined immunodeficiency MONDO:0014760",
"entity_name": "TFRC",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:38:07.967963+10:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC33A1 was added\ngene: SLC33A1 was added to Metal Metabolism Disorders. Sources: Expert Review Green\nMode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC33A1 were set to 31194315\nPhenotypes for gene: SLC33A1 were set to Disorders of copper metabolism; Huppke-Brendel syndrome MONDO:0013772",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:38:07.831315+10:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AP1S1 was added\ngene: AP1S1 was added to Metal Metabolism Disorders. Sources: Expert Review Green\nMode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP1S1 were set to 31399000\nPhenotypes for gene: AP1S1 were set to MEDNIK syndrome MONDO:0012251; Disorders of copper metabolism",
"entity_name": "AP1S1",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:38:07.677350+10:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATP7A was added\ngene: ATP7A was added to Metal Metabolism Disorders. Sources: Expert Review Green\nMode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ATP7A were set to 20170900, 33137485, 31969342, 31558336\nPhenotypes for gene: ATP7A were set to Disorders of copper metabolism; Menkes disease MONDO:0010651, occipital Horn Syndrome (OHS, OMIM #304150), X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489)",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:38:07.526768+10:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MOCOS was added\ngene: MOCOS was added to Metal Metabolism Disorders. Sources: Expert Review Green\nMode of inheritance for gene: MOCOS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MOCOS were set to 25370766, 17368066, 34356852\nPhenotypes for gene: MOCOS were set to Disorders of molybdenum cofactor metabolism; xanthinuria type II MONDO:0011346",
"entity_name": "MOCOS",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:38:07.367628+10:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GPHN was added\ngene: GPHN was added to Metal Metabolism Disorders. Sources: Expert Review Green\nMode of inheritance for gene: GPHN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPHN were set to 27604308, 11095995, 22040219, 9812897\nPhenotypes for gene: GPHN were set to Disorders of molybdenum cofactor metabolism; sulfite oxidase deficiency due to molybdenum cofactor deficiency type C MONDO:0014212",
"entity_name": "GPHN",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:38:07.138563+10:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MOCS2 was added\ngene: MOCS2 was added to Metal Metabolism Disorders. Sources: Expert Review Green\nMode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MOCS2 were set to 27604308, 10053004\nPhenotypes for gene: MOCS2 were set to sulfite oxidase deficiency due to molybdenum cofactor deficiency type B MONDO:0009644; Disorders of molybdenum cofactor metabolism",
"entity_name": "MOCS2",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:38:06.967169+10:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MOCS1 was added\ngene: MOCS1 was added to Metal Metabolism Disorders. Sources: Expert Review Green\nMode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MOCS1 were set to 27604308, 9731530\nPhenotypes for gene: MOCS1 were set to Disorders of molybdenum cofactor metabolism; sulfite oxidase deficiency due to molybdenum cofactor deficiency type A MONDO:0009643",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:36:41.497374+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CTSC was added\ngene: CTSC was added to Lysosomal Storage Disorder. Sources: Expert Review Green\nMode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTSC were set to 31282082; 29884839\nPhenotypes for gene: CTSC were set to ectodermal dysplasia syndrome MONDO:0019287; Other disorders of complex molecule degradation",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:36:41.202378+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SCARB2 was added\ngene: SCARB2 was added to Lysosomal Storage Disorder. Sources: Expert Review Green\nMode of inheritance for gene: SCARB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCARB2 were set to 26677510; 29884839\nPhenotypes for gene: SCARB2 were set to action myoclonus-renal failure syndrome MONDO:0009699; Other disorders of complex molecule degradation",
"entity_name": "SCARB2",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:36:40.925342+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KCTD7 was added\ngene: KCTD7 was added to Lysosomal Storage Disorder. Sources: Expert Review Green\nMode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KCTD7 were set to 36368077; 30295347; 29884839\nPhenotypes for gene: KCTD7 were set to Progressive myoclonus epilepsy MONDO:0020074; Neuronal ceroid lipofuscinosis",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:36:40.674904+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GRN was added\ngene: GRN was added to Lysosomal Storage Disorder. Sources: Expert Review Green\nMode of inheritance for gene: GRN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: GRN were set to 37981505; 38347588; 29884839\nPhenotypes for gene: GRN were set to neuronal ceroid lipofuscinosis MONDO:0016295; GRN-related frontotemporal lobar degeneration with Tdp43 inclusions MONDO:0011842",
"entity_name": "GRN",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:36:40.400422+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RAB7A was added\ngene: RAB7A was added to Lysosomal Storage Disorder. Sources: Expert Review Green\nMode of inheritance for gene: RAB7A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAB7A were set to 35159308; 36449254; 29884839\nPhenotypes for gene: RAB7A were set to Disorders of autophagy; Charcot-Marie-Tooth disease type 2 MONDO:0018993",
"entity_name": "RAB7A",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:36:40.133630+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TBK1 was added\ngene: TBK1 was added to Lysosomal Storage Disorder. Sources: Expert Review Green\nMode of inheritance for gene: TBK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TBK1 were set to 38168426; 38517332; 29884839\nPhenotypes for gene: TBK1 were set to frontotemporal dementia with motor neuron disease MONDO:0017161; Disorders of autophagy",
"entity_name": "TBK1",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:36:39.897328+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TECPR2 was added\ngene: TECPR2 was added to Lysosomal Storage Disorder. Sources: Expert Review Green\nMode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TECPR2 were set to 33213269; 34130600; 29884839\nPhenotypes for gene: TECPR2 were set to Disorders of autophagy; hereditary spastic paraplegia 49 MONDO:0014016",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:36:39.658673+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AP5Z1 was added\ngene: AP5Z1 was added to Lysosomal Storage Disorder. Sources: Expert Review Green\nMode of inheritance for gene: AP5Z1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP5Z1 were set to 26085577; 29884839\nPhenotypes for gene: AP5Z1 were set to Disorders of autophagy; hereditary spastic paraplegia MONDO:0019064",
"entity_name": "AP5Z1",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:36:39.294246+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZFYVE26 was added\ngene: ZFYVE26 was added to Lysosomal Storage Disorder. Sources: Expert Review Green\nMode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZFYVE26 were set to 36029068; 34130600; 29884839\nPhenotypes for gene: ZFYVE26 were set to Disorders of autophagy; hereditary spastic paraplegia 15 MONDO:0010044",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:36:39.020590+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPG11 was added\ngene: SPG11 was added to Lysosomal Storage Disorder. Sources: Expert Review Green\nMode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPG11 were set to 37871017; 37709208; 29884839\nPhenotypes for gene: SPG11 were set to Disorders of autophagy; hereditary spastic paraplegia 11 MONDO:0011445",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:36:38.770586+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SNX14 was added\ngene: SNX14 was added to Lysosomal Storage Disorder. Sources: Expert Review Green\nMode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SNX14 were set to 34130600; 29884839\nPhenotypes for gene: SNX14 were set to Disorders of autophagy; autosomal recessive spinocerebellar ataxia 20 MONDO:0014601",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:36:38.473563+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WDR45 was added\ngene: WDR45 was added to Lysosomal Storage Disorder. Sources: Expert Review Green\nMode of inheritance for gene: WDR45 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: WDR45 were set to 38465922; 29884839\nPhenotypes for gene: WDR45 were set to Disorders of autophagy; X-linked complex neurodevelopmental disorder MONDO:0100148",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:36:38.178836+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EPG5 was added\ngene: EPG5 was added to Lysosomal Storage Disorder. Sources: Expert Review Green\nMode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EPG5 were set to 33674710; 34130600; 29884839\nPhenotypes for gene: EPG5 were set to Disorders of autophagy; Vici syndrome MONDO:0009452",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:34:40.427541+10:00",
"panel_name": "Haem degradation and bilirubin metabolism defects",
"panel_id": 3077,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLCO1B3 was added\ngene: SLCO1B3 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Green\nMode of inheritance for gene: SLCO1B3 was set to Other\nPublications for gene: SLCO1B3 were set to 36964102, 33860121\nPhenotypes for gene: SLCO1B3 were set to Rotor syndrome MONDO:0009379 (MIM#237450), Disorders of bilirubin metabolism and biliary transport",
"entity_name": "SLCO1B3",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:34:40.304075+10:00",
"panel_name": "Haem degradation and bilirubin metabolism defects",
"panel_id": 3077,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC10A2 was added\ngene: SLC10A2 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Red\nMode of inheritance for gene: SLC10A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC10A2 were set to 9109432\nPhenotypes for gene: SLC10A2 were set to bile acid malabsorption, primary, 1 MONDO:0013214; Disorders of bile acid metabolism",
"entity_name": "SLC10A2",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:34:40.190152+10:00",
"panel_name": "Haem degradation and bilirubin metabolism defects",
"panel_id": 3077,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NR1H4 was added\ngene: NR1H4 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Green\nMode of inheritance for gene: NR1H4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NR1H4 were set to 26888176, 32443034\nPhenotypes for gene: NR1H4 were set to Disorders of bile acid metabolism; cholestasis, progressive familial intrahepatic, 5 MONDO:0014884",
"entity_name": "NR1H4",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:34:40.069616+10:00",
"panel_name": "Haem degradation and bilirubin metabolism defects",
"panel_id": 3077,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ABCB4 was added\ngene: ABCB4 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Green\nMode of inheritance for gene: ABCB4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABCB4 were set to 8666348\nPhenotypes for gene: ABCB4 were set to Disorders of bile acid metabolism; progressive familial intrahepatic cholestasis type 3 MONDO:0011214",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:34:39.945020+10:00",
"panel_name": "Haem degradation and bilirubin metabolism defects",
"panel_id": 3077,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ABCB11 was added\ngene: ABCB11 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Green\nMode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABCB11 were set to 9806540\nPhenotypes for gene: ABCB11 were set to progressive familial intrahepatic cholestasis type 2 MONDO:0011156; Disorders of bile acid metabolism",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:34:39.828802+10:00",
"panel_name": "Haem degradation and bilirubin metabolism defects",
"panel_id": 3077,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATP8B1 was added\ngene: ATP8B1 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Green\nMode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP8B1 were set to 9500542\nPhenotypes for gene: ATP8B1 were set to progressive familial intrahepatic cholestasis type 1 MONDO:0008892; Disorders of bile acid metabolism",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:34:39.712184+10:00",
"panel_name": "Haem degradation and bilirubin metabolism defects",
"panel_id": 3077,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLCO1B1 was added\ngene: SLCO1B1 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Green\nMode of inheritance for gene: SLCO1B1 was set to Other\nPublications for gene: SLCO1B1 were set to 36964102, 33860121\nPhenotypes for gene: SLCO1B1 were set to Rotor syndrome MONDO:0009379 (MIM#237450), Disorders of bilirubin metabolism and biliary transport",
"entity_name": "SLCO1B1",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:34:39.574230+10:00",
"panel_name": "Haem degradation and bilirubin metabolism defects",
"panel_id": 3077,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ABCC2 was added\ngene: ABCC2 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Green\nMode of inheritance for gene: ABCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABCC2 were set to 21044052, 11477083\nPhenotypes for gene: ABCC2 were set to Disorders of haem degradation and bilirubin metabolism; Dubin-Johnson syndrome MONDO:0009380",
"entity_name": "ABCC2",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:34:39.438340+10:00",
"panel_name": "Haem degradation and bilirubin metabolism defects",
"panel_id": 3077,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: UGT1A1 was added\ngene: UGT1A1 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Green\nMode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UGT1A1 were set to 26595536\nPhenotypes for gene: UGT1A1 were set to Disorders of haem degradation and bilirubin metabolism; Crigler-Najjar syndrome type 1 MONDO:0021020, Crigler-Najjar syndrome type 2 MONDO:0011725",
"entity_name": "UGT1A1",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:34:39.287986+10:00",
"panel_name": "Haem degradation and bilirubin metabolism defects",
"panel_id": 3077,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BLVRA was added\ngene: BLVRA was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Amber\nMode of inheritance for gene: BLVRA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: BLVRA were set to 19580635, 21278388\nPhenotypes for gene: BLVRA were set to Disorders of haem degradation and bilirubin metabolism; hyperbiliverdinemia MONDO:0013595",
"entity_name": "BLVRA",
"entity_type": "gene"
}
]
}