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{
"count": 220293,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1363",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1361",
"results": [
{
"created": "2021-04-05T21:13:53.749624+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDC73: Rating: GREEN; Mode of pathogenicity: None; Publications: 12434154; Phenotypes: Hyperparathyroidism-jaw tumour syndrome, MIM# 145001, Hyperparathyroidism, familial primary, MIM# 145000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDC73",
"entity_type": "gene"
},
{
"created": "2021-04-05T19:53:34.997058+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CASR as ready",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2021-04-05T19:53:34.986972+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casr has been classified as Green List (High Evidence).",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2021-04-05T19:53:32.448140+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CASR were changed from to Hypocalciuric hypercalcaemia, type I, MIM# 145980; Hyperparathyroidism, neonatal, MIM# 239200",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2021-04-05T19:53:07.154666+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CASR were set to ",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2021-04-05T19:52:39.164740+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CASR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2021-04-05T19:52:06.508661+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CASR: Rating: GREEN; Mode of pathogenicity: None; Publications: 7916660, 7726161, 8675635, 17698911; Phenotypes: Hypocalciuric hypercalcaemia, type I, MIM# 145980, Hyperparathyroidism, neonatal, MIM# 239200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2021-04-05T18:58:27.453472+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP2S1 were changed from Hypocalciuric hypercalcemia, type III, MIM# 600740; MONDO:0010926 to Hypocalciuric hypercalcaemia, type III, MIM# 600740; MONDO:0010926",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2021-04-05T18:58:04.172878+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AP2S1: Changed phenotypes: Hypocalciuric hypercalcaemia, type III, MIM# 600740, MONDO:0010926",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2021-04-05T18:57:48.145139+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AP2S1: Changed phenotypes: Hypocalciuric hypercalcaemia, type III, MIM# 600740, MONDO:0010926",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2021-04-05T18:57:21.821883+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP2S1 were changed from Hypocalciuric hypercalcemia, type III MIM#600740; Developmental disorder to Hypocalciuric hypercalcaemia, type III, MIM# 600740; MONDO:0010926; Developmental disorder",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2021-04-05T18:56:55.222753+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP2S1 were set to 33057194",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2021-04-05T18:56:34.156819+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP2S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23222959, 33729479, 33168530, 3204769, 31723423, 29479578; Phenotypes: Hypocalciuric hypercalcemia, type III, MIM# 600740, MONDO:0010926; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2021-04-05T18:55:12.956833+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP2S1 as ready",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2021-04-05T18:55:12.947296+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap2s1 has been classified as Green List (High Evidence).",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2021-04-05T18:54:08.519245+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP2S1 were changed from to Hypocalciuric hypercalcemia, type III, MIM# 600740; MONDO:0010926",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2021-04-05T18:53:32.572424+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP2S1 were set to ",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2021-04-05T18:52:55.680306+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP2S1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2021-04-05T18:52:26.373750+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP2S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23222959, 33729479, 33168530, 3204769, 31723423, 29479578; Phenotypes: Hypocalciuric hypercalcemia, type III, MIM# 600740, MONDO:0010926; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2021-04-05T17:18:33.328019+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-04-04T20:42:28.288893+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCB7 as ready",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-04-04T20:42:28.279903+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcb7 has been classified as Green List (High Evidence).",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-04-04T20:42:21.663130+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCB7 were changed from to Anaemia, sideroblastic, with ataxia, MIM# 301310",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-04-04T20:42:01.308629+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCB7 were set to ",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-04-04T20:41:41.423871+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCB7 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-04-04T20:41:22.544925+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: None; Publications: 10196363, 10196363, 33157103, 31772327, 31511561, 26242992; Phenotypes: Anaemia, sideroblastic, with ataxia, MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-04-04T20:40:34.718186+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCB7 as ready",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-04-04T20:40:34.707414+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcb7 has been classified as Green List (High Evidence).",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-04-04T20:40:31.331832+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCB7 were changed from to Anaemia, sideroblastic, with ataxia, MIM# 301310",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-04-04T20:39:25.423652+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCB7 were set to ",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-04-04T20:39:07.287993+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCB7 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-04-04T20:38:29.504415+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: None; Publications: 10196363, 10196363, 33157103, 31772327, 31511561, 26242992; Phenotypes: Anaemia, sideroblastic, with ataxia, MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-04-04T20:34:26.659018+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PORCN as ready",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2021-04-04T20:34:26.648299+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: porcn has been classified as Green List (High Evidence).",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2021-04-04T20:34:19.788582+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PORCN were changed from to Focal dermal hypoplasia, MIM# 305600",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2021-04-04T20:34:02.427861+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PORCN was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2021-04-04T20:33:45.871289+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Focal dermal hypoplasia, MIM# 305600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2021-04-04T20:32:57.480347+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PORCN as ready",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2021-04-04T20:32:57.468796+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: porcn has been classified as Green List (High Evidence).",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2021-04-04T20:32:55.442242+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PORCN were changed from Focal dermal hypoplasia to Focal dermal hypoplasia, MIM# 305600",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2021-04-04T20:32:43.359430+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Focal dermal hypoplasia, MIM# 305600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2021-04-04T17:19:40.904964+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EVC as ready",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2021-04-04T17:19:40.894194+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: evc has been classified as Green List (High Evidence).",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2021-04-04T17:19:36.408900+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EVC were changed from Weyers acrofacial dysostosis, Ellis-van Creveld syndrome to Ellis-van Creveld syndrome, MIM# 225500; Weyers acrofacial dysostosis, MIM# 193530",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2021-04-04T17:19:08.441285+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EVC: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2021-04-04T17:18:51.767144+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EVC: Changed phenotypes: Ellis-van Creveld syndrome, MIM# 225500, Weyers acrofacial dysostosis, MIM# 193530",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2021-04-04T17:18:09.889632+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EVC was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2021-04-04T17:17:28.377615+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EVC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM# 225500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2021-04-04T17:15:07.394358+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC2 as ready",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2021-04-04T17:15:07.384118+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc2 has been classified as Green List (High Evidence).",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2021-04-04T17:15:04.426895+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC2 were changed from Xeroderma pigmentosum, Trichothiodystrophy, photosensitive, Cerebrooculofacioskeletal syndrome 2 to Trichothiodystrophy 1, photosensitive, MIM# 601675",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2021-04-04T17:14:55.193691+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC2 were set to ",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2021-04-04T17:14:42.228526+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9195225, 9758621; Phenotypes: Trichothiodystrophy 1, photosensitive, MIM# 601675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2021-04-04T15:12:29.220603+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EDAR as ready",
"entity_name": "EDAR",
"entity_type": "gene"
},
{
"created": "2021-04-04T15:12:29.210542+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: edar has been classified as Green List (High Evidence).",
"entity_name": "EDAR",
"entity_type": "gene"
},
{
"created": "2021-04-04T15:12:27.418223+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EDAR were changed from Ectodermal dysplasia, anhidrotic, Hair morphology to Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, MIM# 129490; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, MIM# 224900",
"entity_name": "EDAR",
"entity_type": "gene"
},
{
"created": "2021-04-04T15:12:11.921529+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EDAR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, MIM# 129490, Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, MIM# 224900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EDAR",
"entity_type": "gene"
},
{
"created": "2021-04-04T15:10:24.881012+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EDA as ready",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2021-04-04T15:10:24.871054+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eda has been classified as Green List (High Evidence).",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2021-04-04T15:10:21.733283+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EDA were changed from Ectodermal dysplasia, hypohidrotic, Tooth agenesis, selective to Ectodermal dysplasia 1, hypohidrotic, X-linked, MIM# 305100; MONDO:0010585",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2021-04-04T15:10:05.327959+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EDA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia 1, hypohidrotic, X-linked, MIM# 305100, MONDO:0010585; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2021-04-04T14:48:09.235530+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMACR as ready",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2021-04-04T14:48:09.224117+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amacr has been classified as Green List (High Evidence).",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2021-04-04T14:48:05.643434+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AMACR as Green List (high evidence)",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2021-04-04T14:48:05.630322+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amacr has been classified as Green List (High Evidence).",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2021-04-04T14:47:57.359262+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AMACR was added\ngene: AMACR was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review\nMode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AMACR were set to 21686617; 20821052; 11861706; 10655068; 15249642; 23286897\nPhenotypes for gene: AMACR were set to Alpha-methylacyl-CoA racemase deficiency, MIM#\t614307\nReview for gene: AMACR was set to GREEN\nAdded comment: Pigmentary retinopathy can be a presenting feature. \nSources: Expert Review",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2021-04-04T14:42:42.417717+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag deep intronic tag was added to gene: PRIM1.\nTag founder tag was added to gene: PRIM1.",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2021-04-04T14:41:44.092233+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.\r\nAuthors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD). \r\n\r\nClinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinemia, and lymphopenia accompanied by intermittent anaemia/thrombocytopenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.\r\n\r\nFunctional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype. \nSources: Literature; to: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.\r\nAuthors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD). \r\n\r\nClinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinaemia, and lymphopaenia accompanied by intermittent anaemia/thrombocytopaenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.\r\n\r\nFunctional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype. \r\nSources: Literature",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2021-04-04T14:41:29.030864+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.\r\nAuthors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD). \r\n\r\nClinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinaemia, and lymphopaenia accompanied by intermittent anaemia/thrombocytopaenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.\r\n\r\nFunctional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype. \r\nSources: Literature; to: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.\r\nAuthors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD). \r\n\r\nClinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinaemia, and lymphopaenia accompanied by intermittent anaemia/thrombocytopaenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.\r\n\r\nFunctional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype. \r\nSources: Literature",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2021-04-04T14:41:08.247524+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRIM1 as ready",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2021-04-04T14:41:08.237678+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prim1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2021-04-04T14:40:59.018959+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRIM1 as Amber List (moderate evidence)",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2021-04-04T14:40:59.009186+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prim1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2021-04-04T14:40:40.746004+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.\r\nAuthors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD). \r\n\r\nClinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinemia, and lymphopenia accompanied by intermittent anaemia/thrombocytopaenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.\r\n\r\nFunctional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype. \r\nSources: Literature; to: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.\r\nAuthors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD). \r\n\r\nClinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinaemia, and lymphopaenia accompanied by intermittent anaemia/thrombocytopaenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.\r\n\r\nFunctional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype. \r\nSources: Literature",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2021-04-04T14:40:24.070440+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.\r\nAuthors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD). \r\n\r\nClinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinemia, and lymphopenia accompanied by intermittent anaemia/thrombocytopenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.\r\n\r\nFunctional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype. \nSources: Literature; to: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.\r\nAuthors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD). \r\n\r\nClinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinemia, and lymphopenia accompanied by intermittent anaemia/thrombocytopaenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.\r\n\r\nFunctional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype. \r\nSources: Literature",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2021-04-04T14:40:08.293369+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRIM1 was added\ngene: PRIM1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRIM1 were set to 33060134\nPhenotypes for gene: PRIM1 were set to Microcephalic primordial dwarfism, MONDO:0017950\nReview for gene: PRIM1 was set to AMBER\nAdded comment: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.\r\nAuthors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD). \r\n\r\nClinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinemia, and lymphopenia accompanied by intermittent anaemia/thrombocytopenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.\r\n\r\nFunctional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype. \nSources: Literature",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2021-04-04T14:39:51.050455+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRIM1 as ready",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2021-04-04T14:39:51.039761+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prim1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2021-04-04T14:37:29.017229+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag deep intronic tag was added to gene: PRIM1.\nTag founder tag was added to gene: PRIM1.",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2021-04-04T14:37:17.680347+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRIM1 as Amber List (moderate evidence)",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2021-04-04T14:37:17.670090+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prim1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2021-04-04T14:36:35.237377+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRIM1 was added\ngene: PRIM1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRIM1 were set to 33060134\nPhenotypes for gene: PRIM1 were set to Microcephalic primordial dwarfism, MONDO:0017950\nReview for gene: PRIM1 was set to AMBER\nAdded comment: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.\r\nAuthors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD). \r\n\r\nClinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinemia, and lymphopenia accompanied by intermittent anaemia/thrombocytopenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.\r\n\r\nFunctional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype. \nSources: Literature",
"entity_name": "PRIM1",
"entity_type": "gene"
},
{
"created": "2021-04-04T13:39:29.461877+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTL9 were changed from Fertilization failure; male infertility to Spermatogenic failure 53, MIM#619258; Fertilization failure; male infertility",
"entity_name": "ACTL9",
"entity_type": "gene"
},
{
"created": "2021-04-04T13:39:08.394482+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACTL9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 53, MIM#619258; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACTL9",
"entity_type": "gene"
},
{
"created": "2021-04-04T13:38:05.965584+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTC5 were changed from Central hypotonia; Global developmental delay; Intellectual disability; Abnormality of nervous system morphology; Microcephaly; Abnormality of the face; Behavioral abnormality; Abnormality of the genitourinary system to Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism , MIM#619244; Central hypotonia; Global developmental delay; Intellectual disability; Abnormality of nervous system morphology; Microcephaly; Abnormality of the face; Behavioral abnormality; Abnormality of the genitourinary system",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2021-04-04T13:37:37.089241+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TTC5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism , MIM#619244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2021-04-04T13:36:39.433055+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTC5 were changed from Intellectual disability; microcephaly to Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism , MIM#619244; Intellectual disability; microcephaly",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2021-04-04T13:36:04.896144+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TTC5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism , MIM#619244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2021-04-04T13:35:41.113282+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTC5 were changed from Central hypotonia; Global developmental delay; Intellectual disability; Abnormality of nervous system morphology; Microcephaly; Abnormality of the face; Behavioral abnormality; Abnormality of the genitourinary system to Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism , MIM#619244; Central hypotonia; Global developmental delay; Intellectual disability; Abnormality of nervous system morphology; Microcephaly; Abnormality of the face; Behavioral abnormality; Abnormality of the genitourinary system",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2021-04-04T13:35:16.972411+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TTC5: Changed phenotypes: Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism , MIM#619244, Central hypotonia, Global developmental delay, Intellectual disability, Abnormality of nervous system morphology, Microcephaly, Abnormality of the face, Behavioral abnormality, Abnormality of the genitourinary system",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2021-04-02T18:46:18.958051+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRKD1 as ready",
"entity_name": "PRKD1",
"entity_type": "gene"
},
{
"created": "2021-04-02T18:46:18.945488+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkd1 has been classified as Green List (High Evidence).",
"entity_name": "PRKD1",
"entity_type": "gene"
},
{
"created": "2021-04-02T18:45:54.073760+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKD1 were changed from Congenital heart defects and ectodermal dysplasia to Congenital heart defects and ectodermal dysplasia, MIM# 617364",
"entity_name": "PRKD1",
"entity_type": "gene"
},
{
"created": "2021-04-02T18:45:44.682944+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRKD1 were set to ",
"entity_name": "PRKD1",
"entity_type": "gene"
},
{
"created": "2021-04-02T18:45:36.667568+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRKD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRKD1",
"entity_type": "gene"
},
{
"created": "2021-04-02T18:44:42.245027+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDH3 as ready",
"entity_name": "CDH3",
"entity_type": "gene"
},
{
"created": "2021-04-02T18:44:42.235792+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdh3 has been classified as Green List (High Evidence).",
"entity_name": "CDH3",
"entity_type": "gene"
},
{
"created": "2021-04-02T18:44:39.953733+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDH3 were changed from Hypotrichosis, congenital, with juvenile macular dystrophy, Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome to Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280; Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553",
"entity_name": "CDH3",
"entity_type": "gene"
},
{
"created": "2021-04-02T18:44:30.933787+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDH3 were set to ",
"entity_name": "CDH3",
"entity_type": "gene"
},
{
"created": "2021-04-02T18:44:20.118866+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11544476, 15805154, 28061825, 22140374; Phenotypes: Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280, Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDH3",
"entity_type": "gene"
}
]
}