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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=584",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=582",
"results": [
{
"created": "2023-07-06T13:03:08.976056+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5255",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: rph3a has been classified as Green List (High Evidence).",
"entity_name": "RPH3A",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:03:07.596679+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.119",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: NUDCD2 as Amber List (moderate evidence)",
"entity_name": "NUDCD2",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:03:07.535708+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.119",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: nudcd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NUDCD2",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:03:03.195181+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1865",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: RPH3A as ready",
"entity_name": "RPH3A",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:03:03.179719+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1865",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: rph3a has been removed from the panel.",
"entity_name": "RPH3A",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:02:47.796041+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5254",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: RPH3A as ready",
"entity_name": "RPH3A",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:02:47.787281+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5254",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: rph3a has been removed from the panel.",
"entity_name": "RPH3A",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:02:14.006770+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.497",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: RAB34 were changed from Multiple congenital anomalies, (MONDO:0019042), RAB34-related to Multiple congenital anomalies, (MONDO:0019042), RAB34-related",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:02:06.949089+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.118",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: NUDCD2 was added\ngene: NUDCD2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: NUDCD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUDCD2 were set to 37272762\nPhenotypes for gene: NUDCD2 were set to Multiple congenital anomalies (MONDO:0019042), NUDCD2-related\nPenetrance for gene: NUDCD2 were set to unknown\nReview for gene: NUDCD2 was set to AMBER\ngene: NUDCD2 was marked as current diagnostic\nAdded comment: - Two unrelated probands, each biallelic for two variants in NUDCD2 (total 3x LoF variants, 1x missense variant)\r\n- Immunoblotting of proteins extracted from the primary fibroblasts of one proband with 2x LoF variants demonstrated markedly reduced NUDCD2 levels compared to healthy individuals \nSources: Literature",
"entity_name": "NUDCD2",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:01:52.329941+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.497",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: RAB34 were changed from Multiple congenital anomalies, (MONDO:0019042), RAB34-related to Multiple congenital anomalies, (MONDO:0019042), RAB34-related",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:01:49.498912+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.962",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: DCAF13 as ready",
"entity_name": "DCAF13",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:01:49.487389+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.962",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: dcaf13 has been classified as Red List (Low Evidence).",
"entity_name": "DCAF13",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:01:46.432100+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.238",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: DRG1 as Green List (high evidence)",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:01:46.421124+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.238",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: drg1 has been classified as Green List (High Evidence).",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:01:33.076545+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.962",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: RAB34 as ready",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:01:33.064348+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.962",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: rab34 has been classified as Green List (High Evidence).",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:01:28.062810+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.962",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: RAB34 were changed from Clefting; corpus callosum; short bones; hypertelorism; polydactyly; cardiac defects; anorectal anomalies to Multiple congenital anomalies, (MONDO:0019042), RAB34-related",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:01:22.966817+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.962",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: DCAF13 as Red List (low evidence)",
"entity_name": "DCAF13",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:01:22.953098+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.962",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: dcaf13 has been classified as Red List (Low Evidence).",
"entity_name": "DCAF13",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:01:19.761541+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.496",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: RAB34 were changed from Clefting; corpus callosum; short bones; hypertelorism; polydactyly; cardiac defects; anorectal anomalies to Multiple congenital anomalies, (MONDO:0019042), RAB34-related",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:01:15.162811+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.962",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: RAB34 as Green List (high evidence)",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:01:15.152039+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.962",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: rab34 has been classified as Green List (High Evidence).",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:01:00.434297+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.118",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: RAB34 as ready",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:01:00.418786+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.118",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: rab34 has been classified as Green List (High Evidence).",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:00:54.183651+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.64",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: DRG1 as Green List (high evidence)",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:00:54.155671+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.64",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: drg1 has been classified as Green List (High Evidence).",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:00:52.332220+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.118",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: RAB34 were changed from Clefting; corpus callosum; short bones; hypertelorism; polydactyly; cardiac defects; anorectal anomalies to Multiple congenital anomalies, (MONDO:0019042), RAB34-related",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:00:48.105981+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.117",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: RAB34 as Green List (high evidence)",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:00:48.095759+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.117",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: rab34 has been classified as Green List (High Evidence).",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:00:43.296120+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.237",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: DRG1 as ready",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:00:43.286355+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.237",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: drg1 has been removed from the panel.",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:00:39.477086+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.198",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: RAB34 as ready",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:00:39.457343+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.198",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: rab34 has been classified as Green List (High Evidence).",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:00:35.306376+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.198",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: RAB34 were changed from Clefting; corpus callosum; short bones; hypertelorism; polydactyly; cardiac defects; anorectal anomalies to Multiple congenital anomalies, (MONDO:0019042), RAB34-related",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:00:30.439827+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.496",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: RAB34 as Green List (high evidence)",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:00:30.412046+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.496",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: rab34 has been classified as Green List (High Evidence).",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:00:29.553623+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.197",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: RAB34 as Green List (high evidence)",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:00:29.540851+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.197",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: rab34 has been classified as Green List (High Evidence).",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:00:22.984427+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.495",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: RAB34 as ready",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T13:00:22.963758+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.495",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: rab34 has been removed from the panel.",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:59:56.890422+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "1.9",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: RAB34 were changed from Multiple congenital anomalies, (MONDO:0019042), RAB34-related to Multiple congenital anomalies, (MONDO:0019042), RAB34-related",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:59:56.232225+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.63",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: DRG1 as ready",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:59:56.196436+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.63",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: drg1 has been removed from the panel.",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:59:44.512467+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.237",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: DRG1 was added\ngene: DRG1 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: DRG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DRG1 were set to PMID: 37179472\nPhenotypes for gene: DRG1 were set to Neurodevelopmental disorder (MONDO:0700092), DRG1-related\nReview for gene: DRG1 was set to GREEN\nAdded comment: PMID: 37179472\r\n- Biallelic variants were identified in four affected individuals from three distinct families with neurodevelopmental disorder with global developmental delay, primary microcephaly, short stature and craniofacial anomalies. Functional studies show the variants result in a loss of function. \nSources: Literature",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:59:32.028427+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "1.8",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: RAB34 were changed from Clefting; corpus callosum; short bones; hypertelorism; polydactyly; cardiac defects; anorectal anomalies to Multiple congenital anomalies, (MONDO:0019042), RAB34-related",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:59:25.542579+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "1.7",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: RAB34 as ready",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:59:25.530649+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "1.7",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: rab34 has been classified as Green List (High Evidence).",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:59:21.106458+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.63",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: DRG1 as ready",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:59:21.096940+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.63",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: drg1 has been removed from the panel.",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:59:11.468521+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "1.7",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: RAB34 as Green List (high evidence)",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:59:11.452412+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "1.7",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: rab34 has been classified as Green List (High Evidence).",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:59:09.966126+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.209",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: DRG1 as Green List (high evidence)",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:59:09.932855+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.209",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: drg1 has been classified as Green List (High Evidence).",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:59:04.889073+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.209",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: DRG1 as ready",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:59:04.878434+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.209",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: drg1 has been classified as Green List (High Evidence).",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:58:51.438072+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.209",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: DRG1 as Green List (high evidence)",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:58:51.400617+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.209",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: drg1 has been classified as Green List (High Evidence).",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:58:34.166035+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.208",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: DRG1 as Green List (high evidence)",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:58:34.141843+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.208",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: drg1 has been classified as Green List (High Evidence).",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:58:24.093725+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "1.6",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: RAB34 as Green List (high evidence)",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:58:24.082040+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "1.6",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: rab34 has been classified as Green List (High Evidence).",
"entity_name": "RAB34",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:57:58.668674+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.208",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: DRG1 as Green List (high evidence)",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:57:58.643227+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.208",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: drg1 has been classified as Green List (High Evidence).",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:57:12.686720+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.207",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: DRG1 was added\ngene: DRG1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: DRG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DRG1 were set to PMID: 37179472\nPhenotypes for gene: DRG1 were set to Neurodevelopmental disorder (MONDO:0700092), DRG1-related\nReview for gene: DRG1 was set to GREEN\nAdded comment: PMID: 37179472\r\n- Biallelic variants were identified in four affected individuals from three distinct families with neurodevelopmental disorder with global developmental delay, primary microcephaly, short stature and craniofacial anomalies. Functional studies show the variants result in a loss of function. \nSources: Literature",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:56:46.735226+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.961",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: ARPC5 was added\ngene: ARPC5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ARPC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARPC5 were set to 37349293; 37382373\nPhenotypes for gene: ARPC5 were set to Combined immunodeficiency, ARPC5-related MONDO:0015131\nReview for gene: ARPC5 was set to GREEN\ngene: ARPC5 was marked as current diagnostic\nAdded comment: 4 individuals from 3 families reported with homozygous LoF variants. All had recurrent and severe infections. Other developmental anomalies were present but seemed variable.\r\n\r\nPMID:37349293 reports 2 unrelated patients. Both had scoliosis. One had neurodevelopmental delay and brain atrophy. Patient 1 died at 15yo after a sudden episode of hemoptysis and hematochezia. Patient 2 died at 1yo because of progressive neurologic and respiratory disease; an autopsy was not performed.\r\n\r\nPMID:37382373 reports 2 patients from the same family. One had multiple congenital anomalies including a congenital heart defect (CHD) (patent foramen ovale), cleft palate, and hypoplastic corpus callosum. The sibling also had CHD (moderate pulmonary stenosis and atrial septal defect).\r\n\r\nFunctional studies and a mouse model were supportive of the disease association. \nSources: Literature",
"entity_name": "ARPC5",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:56:39.021841+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.8",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "changed review comment from: Sources: Literature; to: PMID: 37253099: screening analysis of Moyamoya disease (MMD) cohort revealed 8 patients with variants in the ANO1 gene. Two families had the same rare variant p.Met658Val in ANO1 gene. The ANO1 rare variants were assessed using patch-clamp recordings, and the majority of variants, including ANO1 p.Met658Val, displayed increased sensitivity to intracellular Ca2+. Patients harboring these gain-of-function ANO1 variants had classic features of MMD, but also had aneurysm, stenosis, and/or occlusion in the posterior circulation.",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:56:06.021612+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.961",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: RPH3A as ready",
"entity_name": "RPH3A",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:56:06.011689+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.961",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: rph3a has been classified as Green List (High Evidence).",
"entity_name": "RPH3A",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:56:01.556439+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.8",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "gene: ANO1 was added\ngene: ANO1 was added to Stroke. Sources: Literature\nMode of inheritance for gene: ANO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ANO1 were set to PMID: 37253099\nPhenotypes for gene: ANO1 were set to moyamoya; cerebral arteriopathy; stroke; MONDO:0016820\nPenetrance for gene: ANO1 were set to unknown\nReview for gene: ANO1 was set to AMBER\nAdded comment: Sources: Literature",
"entity_name": "ANO1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:55:57.295195+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5254",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "edited their review of gene: SART3: Changed phenotypes: Neurodevelopmental disorder (MONDO#0700092), SART3-related, 46,XY disorder of sex development (MONDO:0020040), SART3-related",
"entity_name": "SART3",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:55:55.899039+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.961",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: DRG1 as ready",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:55:55.891912+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.961",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: drg1 has been classified as Green List (High Evidence).",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:55:52.121709+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.961",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: RPH3A as Green List (high evidence)",
"entity_name": "RPH3A",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:55:52.110376+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.961",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: rph3a has been classified as Green List (High Evidence).",
"entity_name": "RPH3A",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:55:47.378012+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.961",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: DRG1 as Green List (high evidence)",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:55:47.368609+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.961",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: drg1 has been classified as Green List (High Evidence).",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:55:40.668372+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.51",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: MIR204 as ready",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:55:40.653701+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.51",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mir204 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:55:37.314695+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.63",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: DRG1 was added\ngene: DRG1 was added to Growth failure. Sources: Literature\nMode of inheritance for gene: DRG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DRG1 were set to PMID: 37179472\nPhenotypes for gene: DRG1 were set to Neurodevelopmental disorder (MONDO:0700092), DRG1-related\nReview for gene: DRG1 was set to GREEN\nAdded comment: PMID: 37179472\r\n- Biallelic variants were identified in four affected individuals from three distinct families with neurodevelopmental disorder with global developmental delay, primary microcephaly, short stature and craniofacial anomalies. Functional studies show the variants result in a loss of function. \nSources: Literature",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:55:37.291474+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.51",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: MIR204 as Amber List (moderate evidence)",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:55:37.282891+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.51",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mir204 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:55:27.712591+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.116",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: DRG1 as ready",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:55:27.705363+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.116",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: drg1 has been classified as Green List (High Evidence).",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:55:20.709265+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.960",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: MIR204 as Amber List (moderate evidence)",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:55:20.694167+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.960",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mir204 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:55:17.731597+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.39",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: ARPC5 was added\ngene: ARPC5 was added to Combined Immunodeficiency. Sources: Literature\nMode of inheritance for gene: ARPC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARPC5 were set to 37349293; 37382373\nPhenotypes for gene: ARPC5 were set to Combined immunodeficiency, ARPC5-related MONDO:0015131\nReview for gene: ARPC5 was set to GREEN\ngene: ARPC5 was marked as current diagnostic\nAdded comment: 4 individuals from 3 families reported with homozygous LoF variants. All had recurrent and severe infections. Other developmental anomalies were present but seemed variable.\r\n\r\nPMID:37349293 reports 2 unrelated patients. Both had scoliosis. One had neurodevelopmental delay and brain atrophy. Patient 1 died at 15yo after a sudden episode of hemoptysis and hematochezia. Patient 2 died at 1yo because of progressive neurologic and respiratory disease; an autopsy was not performed.\r\n\r\nPMID:37382373 reports 2 patients from the same family. One had multiple congenital anomalies including a congenital heart defect (CHD) (patent foramen ovale), cleft palate, and hypoplastic corpus callosum. The sibling also had CHD (moderate pulmonary stenosis and atrial septal defect).\r\n\r\nFunctional studies and a mouse model were supportive of the disease association. \nSources: Literature",
"entity_name": "ARPC5",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:55:11.191663+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.116",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Publications for gene: DRG1 were set to PMID: 37179472",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:55:00.054609+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.959",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: MIR204 as Amber List (moderate evidence)",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:54:59.993828+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.959",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mir204 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:54:59.698404+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.958",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: MIR204 as ready",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:54:59.671718+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.958",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mir204 has been removed from the panel.",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:54:58.050326+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.115",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: DRG1 as Green List (high evidence)",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:54:58.013514+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.115",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: drg1 has been classified as Green List (High Evidence).",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:54:56.190387+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.50",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: MIR204 was added\ngene: MIR204 was added to Cone-rod Dystrophy. Sources: Literature\nMode of inheritance for gene: MIR204 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MIR204 were set to 26056285; 37321975\nPhenotypes for gene: MIR204 were set to Retinal dystrophy and iris coloboma with or without cataract (MIM#616722)\nMode of pathogenicity for gene: MIR204 was set to Other\nReview for gene: MIR204 was set to AMBER\ngene: MIR204 was marked as current diagnostic\nAdded comment: PMID: 26056285\r\n- Bilateral coloboma and rod-cone dystrophy with or without cataract in nine individuals of a five-generation family.\r\n- Heterozygous n.37C>T segregates with the disease in all affected individuals.\r\n- Functional analysis including transcriptome analysis showed this variant resulted in significant alterations of miR-204 targeting capabilities. In vivo injection, in medaka fish (Oryzias latipes), of the mutated miR-204 caused a phenotype consistent with that observed in the family. \r\n- Authors suggested gain of function is the likely disease mechanism.\r\n\r\nPMID: 37321975\r\n- Four members of a three-generation family with early-onset chorioretinal dystrophy, heterozygous for n.37C>T.\r\n- Additionally, four family members were shown to be affected by albinism resulting from biallelic pathogenic OCA2 variants.\r\n- Haplotype analysis excluded relatedness with the family reported in PMID: 26056285.\r\n- In silico analysis of the MIR204 n.37C>T variant reveals profound changes to its target mRNAs and suggests a gain-of-function mechanism of miR 204 variant. \nSources: Literature",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:54:28.381073+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5254",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: DRG1 as Green List (high evidence)",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:54:28.360992+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5254",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: drg1 has been classified as Green List (High Evidence).",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:54:16.834771+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.18",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: MIR204 as ready",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:54:16.826235+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.18",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mir204 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MIR204",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:54:13.700265+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5253",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: DRG1 as ready",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-07-06T12:54:13.692028+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5253",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: drg1 has been classified as Green List (High Evidence).",
"entity_name": "DRG1",
"entity_type": "gene"
}
]
}