HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=610",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=608",
"results": [
{
"created": "2023-04-28T17:13:51.483029+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Brain calcification appears to be a variable feature of the ODDD phenotype",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2023-04-28T17:13:51.452052+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gja1 has been classified as Green List (High Evidence).",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2023-04-28T17:13:47.614365+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GJA1 as ready",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2023-04-28T17:13:47.601528+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gja1 has been classified as Green List (High Evidence).",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2023-04-28T17:13:13.926360+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2023-04-28T17:13:06.441401+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Brain calcification appears to be a variable feature of the ODDD phenotype",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2023-04-28T17:13:06.399002+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: GJA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2023-04-28T17:09:44.891580+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GJA1 as Green List (high evidence)",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2023-04-28T17:09:44.876277+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gja1 has been classified as Green List (High Evidence).",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2023-04-28T16:50:39.287996+10:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "1.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PORCN as ready",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2023-04-28T16:50:39.238814+10:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "1.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: porcn has been classified as Green List (High Evidence).",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2023-04-28T16:50:34.189168+10:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "1.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PORCN as Green List (high evidence)",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2023-04-28T16:50:34.179342+10:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "1.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Added from PanelApp UK mosaic skin disorders panel",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2023-04-28T16:50:34.135020+10:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "1.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: porcn has been classified as Green List (High Evidence).",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2023-04-28T16:50:03.510358+10:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "1.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: BRAF as Green List (high evidence)",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2023-04-28T16:50:03.493995+10:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "1.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Added from PanelApp UK Mosaic skin disorders panel",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2023-04-28T16:50:03.403570+10:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "1.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: braf has been classified as Green List (High Evidence).",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2023-04-28T16:49:15.557851+10:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: BRAF as ready",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2023-04-28T16:49:15.546815+10:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: braf has been classified as Green List (High Evidence).",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2023-04-28T16:49:09.249146+10:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: BRAF as Green List (high evidence)",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2023-04-28T16:49:09.238080+10:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: braf has been classified as Green List (High Evidence).",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2023-04-28T09:10:26.625384+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNM1 were changed from Developmental and epileptic encephalopathy 31, OMIM:616346 to Developmental and epileptic encephalopathy 31A, autosomal dominant, MIM# 616346; Developmental and epileptic encephalopathy 31B, autosomal recessive, MIM# 620352",
"entity_name": "DNM1",
"entity_type": "gene"
},
{
"created": "2023-04-28T09:10:01.828110+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DNM1: Changed phenotypes: Developmental and epileptic encephalopathy 31A, autosomal dominant, MIM# 616346, Developmental and epileptic encephalopathy 31B, autosomal recessive, MIM# 620352",
"entity_name": "DNM1",
"entity_type": "gene"
},
{
"created": "2023-04-28T09:09:46.304905+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNM1 were changed from Developmental and epileptic encephalopathy 31, OMIM:616346 to Developmental and epileptic encephalopathy 31A, autosomal dominant, MIM# 616346; Developmental and epileptic encephalopathy 31B, autosomal recessive, MIM# 620352",
"entity_name": "DNM1",
"entity_type": "gene"
},
{
"created": "2023-04-28T09:09:12.667668+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DNM1: Changed phenotypes: Developmental and epileptic encephalopathy 31A, autosomal dominant, MIM# 616346, Developmental and epileptic encephalopathy 31B, autosomal recessive, MIM# 620352",
"entity_name": "DNM1",
"entity_type": "gene"
},
{
"created": "2023-04-28T09:08:57.218169+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNM1 as ready",
"entity_name": "DNM1",
"entity_type": "gene"
},
{
"created": "2023-04-28T09:08:57.210177+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnm1 has been classified as Green List (High Evidence).",
"entity_name": "DNM1",
"entity_type": "gene"
},
{
"created": "2023-04-28T09:08:53.979308+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNM1 were changed from Developmental and epileptic encephalopathy 31, OMIM:616346 to Developmental and epileptic encephalopathy 31A, autosomal dominant, MIM# 616346; Developmental and epileptic encephalopathy 31B, autosomal recessive, MIM# 620352",
"entity_name": "DNM1",
"entity_type": "gene"
},
{
"created": "2023-04-28T09:08:17.464868+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DNM1: Changed phenotypes: Developmental and epileptic encephalopathy 31A, autosomal dominant, MIM# 616346, Developmental and epileptic encephalopathy 31B, autosomal recessive, MIM# 620352",
"entity_name": "DNM1",
"entity_type": "gene"
},
{
"created": "2023-04-28T09:07:56.749228+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNM1 were changed from Developmental and epileptic encephalopathy 31, OMIM:616346 to Developmental and epileptic encephalopathy 31A, autosomal dominant, MIM# 616346; Developmental and epileptic encephalopathy 31B, autosomal recessive, MIM# 620352",
"entity_name": "DNM1",
"entity_type": "gene"
},
{
"created": "2023-04-28T09:07:28.846948+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DNM1: Changed phenotypes: Developmental and epileptic encephalopathy 31A, autosomal dominant, MIM# 616346, Developmental and epileptic encephalopathy 31B, autosomal recessive, MIM# 620352",
"entity_name": "DNM1",
"entity_type": "gene"
},
{
"created": "2023-04-27T17:52:45.889168+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.51",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "reviewed gene: SLC20A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28162874, 31267306, 35850697, 34025715; Phenotypes: Basal ganglia calcification, idiopathic, 1, MIM# 213600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC20A2",
"entity_type": "gene"
},
{
"created": "2023-04-27T16:55:20.551653+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.51",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35418820, 36405817; Phenotypes: Aicardi-Goutieres syndrome 5, MIM# 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2023-04-27T16:24:08.887356+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.51",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301648, 33681774, 27411419; Phenotypes: Aicardi-Goutieres syndrome 3, MIM# 610329; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2023-04-27T15:52:28.509466+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.51",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301648, 33482855, 30826161, 26581299; Phenotypes: Aicardi-Goutieres syndrome 2, MIM# 610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2023-04-27T11:46:25.602866+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.12",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: 32548275, 36367250, 35243150; Phenotypes: Optical atrophy MONDO#0003608); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2023-04-27T08:53:29.362021+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5209",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "commented on gene: RBSN",
"entity_name": "RBSN",
"entity_type": "gene"
},
{
"created": "2023-04-27T01:19:23.975293+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.819",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "edited their review of gene: INTS11: Changed phenotypes: intellectual disability, MONDO:0001071",
"entity_name": "INTS11",
"entity_type": "gene"
},
{
"created": "2023-04-27T01:18:36.394680+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.819",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: INTS11 was added\ngene: INTS11 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: INTS11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INTS11 were set to 37054711\nReview for gene: INTS11 was set to GREEN\nAdded comment: Comment on gene rating: This gene should be rated GREEN in Intellectual disability panel as it has 10 unrelated cases and functional evidence in support of this association.\r\n\r\nPMID:37054711 reported ten unrelated families with biallelic variants in INTS11 gene and they present with intellectual disability, global developmental and language delay, impaired motor development, and brain atrophy.\r\n\r\nFunctional studies in Drosophila showed that dIntS11 (fly ortholog of INTS11) is essential and expressed in the central nervous systems in a subset of neurons and most glia in larval and adult stages. In addition, genes with two variants (p.Arg17Leu and p.His414Tyr) fail to rescue the lethality of null mutants in the Drosophila model, indicating that they are strong loss-of-function variants. The other five variants (p.Gly55Ser, p.Leu138Phe, p.Lys396Glu, p.Val517Met and p.Ile553Glu) rescue lethality but cause a shortened lifespan and bang sensitivity and affect locomotor activity, indicating that they are partial loss-of-function variants. \nSources: Literature",
"entity_name": "INTS11",
"entity_type": "gene"
},
{
"created": "2023-04-26T15:10:43.338389+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: DNAH14.",
"entity_name": "DNAH14",
"entity_type": "gene"
},
{
"created": "2023-04-26T15:10:27.229755+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: DNAH14.",
"entity_name": "DNAH14",
"entity_type": "gene"
},
{
"created": "2023-04-26T15:10:01.809037+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: DNAH14.",
"entity_name": "DNAH14",
"entity_type": "gene"
},
{
"created": "2023-04-26T14:41:23.964961+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5209",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: DNAH14 as Red List (low evidence)",
"entity_name": "DNAH14",
"entity_type": "gene"
},
{
"created": "2023-04-26T14:41:23.954312+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5209",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: dnah14 has been classified as Red List (Low Evidence).",
"entity_name": "DNAH14",
"entity_type": "gene"
},
{
"created": "2023-04-26T14:41:05.171460+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5209",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: DNAH14 as Red List (low evidence)",
"entity_name": "DNAH14",
"entity_type": "gene"
},
{
"created": "2023-04-26T14:41:05.162769+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5209",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: dnah14 has been classified as Red List (Low Evidence).",
"entity_name": "DNAH14",
"entity_type": "gene"
},
{
"created": "2023-04-26T14:40:27.277023+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5208",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: DNAH14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAH14",
"entity_type": "gene"
},
{
"created": "2023-04-26T14:40:06.325565+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1842",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: DNAH14 as Red List (low evidence)",
"entity_name": "DNAH14",
"entity_type": "gene"
},
{
"created": "2023-04-26T14:40:06.314754+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1842",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: dnah14 has been classified as Red List (Low Evidence).",
"entity_name": "DNAH14",
"entity_type": "gene"
},
{
"created": "2023-04-26T14:39:43.087042+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1842",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: DNAH14 as Red List (low evidence)",
"entity_name": "DNAH14",
"entity_type": "gene"
},
{
"created": "2023-04-26T14:39:43.064551+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1842",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: dnah14 has been classified as Red List (Low Evidence).",
"entity_name": "DNAH14",
"entity_type": "gene"
},
{
"created": "2023-04-26T14:38:59.179714+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1841",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: DNAH14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAH14",
"entity_type": "gene"
},
{
"created": "2023-04-26T14:38:24.063335+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.819",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "commented on gene: DNAH14",
"entity_name": "DNAH14",
"entity_type": "gene"
},
{
"created": "2023-04-26T14:37:03.172069+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.819",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: DNAH14 as Red List (low evidence)",
"entity_name": "DNAH14",
"entity_type": "gene"
},
{
"created": "2023-04-26T14:37:03.158868+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.819",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: dnah14 has been classified as Red List (Low Evidence).",
"entity_name": "DNAH14",
"entity_type": "gene"
},
{
"created": "2023-04-25T10:54:43.949543+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.51",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "edited their review of gene: MT-ATP6: Changed phenotypes: Leigh syndrome, MIM* 516060",
"entity_name": "MT-ATP6",
"entity_type": "gene"
},
{
"created": "2023-04-25T10:54:15.341446+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.51",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "changed review comment from: There is insufficient evidence supporting the causal role of the QDPR gene in brain calcification. \nSources: Expert list; to: There is insufficient evidence supporting the causal role of the QDPR gene in brain calcification.\r\nThe suggested literature (PMID 2135679) is not accessible in PubMed. A similar paper, PMID 2785251, reports intracranial calcification in a patient with dihydropteridine reductase deficiency. DNA sequencing was not available when the case was reported.\r\nSources: Expert list",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2023-04-25T03:25:47.625869+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.51",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: QDPR was added\ngene: QDPR was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: QDPR were set to 2135679\nPhenotypes for gene: QDPR were set to Dihydropteridine Reductase (DHPR) Deficiency, MIM* 612676\nReview for gene: QDPR was set to RED\nAdded comment: There is insufficient evidence supporting the causal role of the QDPR gene in brain calcification. \nSources: Expert list",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2023-04-25T03:09:03.224643+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.51",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: RAB39B was added\ngene: RAB39B was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: RAB39B were set to 27943471\nPhenotypes for gene: RAB39B were set to Intellectual developmental disorder, X-linked 72, MIM# 300271\nReview for gene: RAB39B was set to RED\nAdded comment: Only one 2 cases from the same family are reported, insufficient evidence supports the causal role of the RAB39B gene in brain calcification.\r\nPMID 27943471 reports 2 patients (II-2 and III-1) from the same family harbouring a RAB39B variant (c.536dupA, p.E179fsX48) who developed brain calcification. \nSources: Expert list",
"entity_name": "RAB39B",
"entity_type": "gene"
},
{
"created": "2023-04-25T01:33:18.475362+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.51",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: PTS was added\ngene: PTS was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTS were set to 16601879; 32734340\nPhenotypes for gene: PTS were set to Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640\nReview for gene: PTS was set to RED\nAdded comment: Although brain calcification might be seen in patients with BH4 deficiency, none of the papers mentions PTS variants found in the affected patients. \r\nFurther, there are multiple genes that can cause BH4 deficiency, of which PTS is one of them.\r\nThe suggested literature, PMID 16601879, reports a BH4 deficiency patient with brain calcification (No.544). However, the mutation analysis was not done for this patient.\r\nInsufficient evidence suggests the causal role of the PTS gene in brain calcification. \nSources: Expert list",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2023-04-25T00:40:35.352047+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.51",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: PTH was added\ngene: PTH was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: PTH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PTH were set to 29383229\nPhenotypes for gene: PTH were set to Hypoparathyroidism, familial isolated 1, MIM# 146200\nReview for gene: PTH was set to RED\nAdded comment: Several publications report brain calcifications found in patients with hyperparathyroidism (e.g. PMID 29383229); however, none of them reports the genetic profiles of the patients. \r\nIn addition, less than 10% of hyperparathyroidism cases are due to genetic causes.\r\nThus, limited evidence suggests a causal role of the PTH gene in brain calcification. \nSources: Expert list",
"entity_name": "PTH",
"entity_type": "gene"
},
{
"created": "2023-04-25T00:03:49.275501+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.51",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: PSMB8 was added\ngene: PSMB8 was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSMB8 were set to 28895430; 23768303\nPhenotypes for gene: PSMB8 were set to Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM# 256040\nReview for gene: PSMB8 was set to RED\nAdded comment: Insufficient evidence supports the causal role of the PSMB8 gene in brain calcification.\r\nPMID 28895430 report a patient with homozygous PSMB8 variants (p.A92T) who developed basal ganglia calcification.\r\nPMID 23768303 reports a patient with heterozygous PSMB8 variants (p.A92T/p.T75M) who had brain calcification. \nSources: Expert list",
"entity_name": "PSMB8",
"entity_type": "gene"
},
{
"created": "2023-04-24T22:25:46.090774+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.51",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: PSMG2 was added\ngene: PSMG2 was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: PSMG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSMG2 were set to 30664889\nPhenotypes for gene: PSMG2 were set to Proteasome-associated autoinflammatory syndrome 4,\tMIM# 619183\nReview for gene: PSMG2 was set to RED\nAdded comment: There is limited evidence supporting the causal role of PSMG2 in brain calcification.\r\nPMID 30664889 reports a patient with heterozygous PSMG2 variants (c.666_667delGT, p.Y223Sfs*2 and c.675 T>G, p.N225K) who had bilateral basal ganglia calcifications. \nSources: Expert list",
"entity_name": "PSMG2",
"entity_type": "gene"
},
{
"created": "2023-04-24T21:44:15.095876+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.51",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: PLXNA1 was added\ngene: PLXNA1 was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: PLXNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PLXNA1 were set to 34054129\nPhenotypes for gene: PLXNA1 were set to Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955\nReview for gene: PLXNA1 was set to RED\nAdded comment: There is limited evidence supporting the causal role of the PLXNA1 gene in brain calcification.\r\nPMID 34054129 reports a patient (H:II-1) with a PLXNA1 variant (c.5242C>T) who developed basal ganglia calcifications. \nSources: Expert list",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2023-04-23T19:46:28.427072+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RFX7 were changed from ID, ASD, ADHD to Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities, MIM# 620330",
"entity_name": "RFX7",
"entity_type": "gene"
},
{
"created": "2023-04-23T19:45:43.710198+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RFX7 were changed from ID, ASD, ADHD to Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities, MIM# 620330",
"entity_name": "RFX7",
"entity_type": "gene"
},
{
"created": "2023-04-23T19:45:15.849979+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RFX7: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities, MIM# 620330",
"entity_name": "RFX7",
"entity_type": "gene"
},
{
"created": "2023-04-23T19:43:58.826647+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED11 were changed from neurodevelopmental disorder MONDO#0700092, MED11-related to Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, MIM# 620327",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2023-04-23T19:43:25.592589+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MED11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, MIM# 620327; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2023-04-23T19:43:04.240524+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED11 were changed from neurodevelopmental disorder MONDO#0700092, MED11-related to Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, MIM# 620327",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2023-04-23T19:41:53.341157+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED11 were changed from neurodevelopmental disorder MONDO#0700092, MED11-related to Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, MIM# 620327",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2023-04-23T19:41:15.793398+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MED11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, MIM# 620327; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2023-04-23T19:40:52.152565+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED11 were changed from neurodevelopmental disorder MONDO#0700092, MED11-related to Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, MIM# 620327",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2023-04-23T19:40:30.377098+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MED11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, MIM# 620327; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2023-04-23T19:40:08.840507+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED11 were changed from neurodevelopmental disorder MONDO#0700092, MED11-related to Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, MIM# 620327",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2023-04-23T19:39:35.117907+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MED11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, MIM# 620327; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2023-04-23T19:38:48.680383+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MARS were changed from Interstitial lung and liver disease, MIM#615486; Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280; Trichothiodystrophy 9, nonphotosensitive, MIM#\t619692 to Interstitial lung and liver disease, MIM#615486; Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280; Trichothiodystrophy 9, nonphotosensitive, MIM#\t619692; Spastic paraplegia 70, autosomal recessive, MIM# 620323",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2023-04-23T19:38:18.820402+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MARS were set to 23729695; 24354524; 29655802; 24103465; 25913036; 33909043",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2023-04-23T19:37:51.449674+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MARS: Added comment: Six individuals from two unrelated families reported with SPG.; Changed publications: 23729695, 24354524, 29655802, 24103465, 25913036, 24482476, 34585293; Changed phenotypes: Interstitial lung and liver disease, MIM#615486, Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280, Spastic paraplegia 70, autosomal recessive, MIM# 620323",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2023-04-23T19:36:52.317996+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MARS were changed from Complicated hereditary spastic paraplegia; Charcot-Marie-Tooth disease, axonal, type 2U, MIM#\t616280 to Spastic paraplegia 70, autosomal recessive, MIM# 620323",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2023-04-23T19:36:38.606070+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MARS were set to 24482476",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2023-04-23T19:36:22.380706+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MARS as Amber List (moderate evidence)",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2023-04-23T19:36:22.366563+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mars has been classified as Amber List (Moderate Evidence).",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2023-04-23T19:36:06.663869+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MARS: Rating: AMBER; Mode of pathogenicity: None; Publications: 34585293; Phenotypes: Spastic paraplegia 70, autosomal recessive, MIM# 620323; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2023-04-23T19:34:11.288239+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WARS were changed from Neurodevelopmental disorder (MONDO:0700092), WARS-related to Neurodevelopmental disorder withmicrocephaly and speech delay, with or without brain abnormalities,MIM# 620317",
"entity_name": "WARS",
"entity_type": "gene"
},
{
"created": "2023-04-23T19:33:51.727371+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder withmicrocephaly and speech delay, with or without brain abnormalities,MIM# 620317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WARS",
"entity_type": "gene"
},
{
"created": "2023-04-23T19:33:21.217534+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WARS were changed from Neurodevelopmental disorder (MONDO:0700092), WARS-related to Neurodevelopmental disorder withmicrocephaly and speech delay, with or without brain abnormalities,MIM# 620317",
"entity_name": "WARS",
"entity_type": "gene"
},
{
"created": "2023-04-23T19:32:46.837236+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder withmicrocephaly and speech delay, with or without brain abnormalities,MIM# 620317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WARS",
"entity_type": "gene"
},
{
"created": "2023-04-23T19:32:28.696119+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WARS were changed from Neurodevelopmental disorder (MONDO:0700092), WARS-related to Neurodevelopmental disorder withmicrocephaly and speech delay, with or without brain abnormalities,MIM# 620317",
"entity_name": "WARS",
"entity_type": "gene"
},
{
"created": "2023-04-23T19:31:54.604233+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder withmicrocephaly and speech delay, with or without brain abnormalities,MIM# 620317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WARS",
"entity_type": "gene"
},
{
"created": "2023-04-23T19:31:23.274056+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WARS were changed from Neuronopathy, distal hereditary motor, type IX (OMIM:617721); juvenile to adult onset (15-23 years); Neurodevelopmental disorder (MONDO:0700092), WARS-related to Neuronopathy, distal hereditary motor, type IX (OMIM:617721); juvenile to adult onset (15-23 years); Neurodevelopmental disorder withmicrocephaly and speech delay, with or without brain abnormalities, MIM#\t620317",
"entity_name": "WARS",
"entity_type": "gene"
},
{
"created": "2023-04-23T19:29:32.059089+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UNC119 were changed from Cone-rod dystrophy, MONDO:0015993 to Cone-rod dystrophy 24, MIM# 620342",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2023-04-23T19:29:18.058074+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UNC119: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cone-rod dystrophy 24, MIM# 620342; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2023-04-23T19:28:54.856157+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UNC119 were changed from Cone-rod dystrophy, MONDO:0015993; Immunodeficiency 13 MIM#615518 to Cone-rod dystrophy 24, MIM# 620342; Immunodeficiency 13 MIM#615518",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2023-04-23T19:28:29.004443+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UNC119: Changed phenotypes: Cone-rod dystrophy 24, MIM# 620342, Immunodeficiency 13 MIM#615518",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2023-04-23T17:26:00.237930+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.51",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "reviewed gene: PDGFRB: Rating: ; Mode of pathogenicity: None; Publications: 29955172, 23255827; Phenotypes: Basal ganglia calcification, idiopathic, 4, MIM# 615007; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2023-04-23T16:27:52.412231+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.51",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "reviewed gene: PDGFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 27433546, 35747618, 25211641, 29955172, 31267306, 28162874; Phenotypes: Basal ganglia calcification, idiopathic, 5, MIM# 615483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDGFB",
"entity_type": "gene"
},
{
"created": "2023-04-23T13:28:34.147691+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.51",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: PCDH12 was added\ngene: PCDH12 was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCDH12 were set to 28804758; 34773825; 30178464\nPhenotypes for gene: PCDH12 were set to Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280\nReview for gene: PCDH12 was set to GREEN\nAdded comment: PMID 28804758 reports a patient with a homozygous PCDH12 nonsense variant who developed brain calcification. The authors also screen the PCDH12 gene in 79 patients with unknown causes of brain calcification and detected 4 rare PCDH12 variants in 4 unrelated patients. This finding confirms the association between PCDH12 and brain calcification, supported by very low frequencies in the ExAC database, functional studies of the variants, studies of patient cells, and segregation studies.\r\nPMID 34773825 reports a patient with a homozygous truncating variant (c.1176G>A; p.Trp392*) in PCDH12 who developed brain calcification.\r\nPMID 30178464 described 14 affected individuals from 8 families who carried PCDH12 variants. The authors report 6 patients with PCDH12 variants who developed subtle brain calcifications; however, the relationship between these patients is unclear and the results of CT studies of these 6 patients are not shown in the article. \nSources: Expert list",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2023-04-20T16:15:37.561303+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.51",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: PANK2 was added\ngene: PANK2 was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PANK2 were set to 23968566; 29642163; 28024710\nPhenotypes for gene: PANK2 were set to Neurodegeneration with brain iron accumulation 1, MIM# 234200\nReview for gene: PANK2 was set to RED\nAdded comment: The 3 cases were reported within 5 years (2013-2018); however, no more new cases are reported after 2018. Hence, limited evidence supports the causal role of the MOCS1 gene in brain calcification.\r\nPMID 23968566 reports a patient with heterozygous PANK2 variants (p.G521R and p.T528M) who exhibited basal ganglia calcifications. \r\nPMID 29642163 reports a patient with heterozygous PANK2 variants (p.D217G and p.D447E) who developed basal ganglia calcifications.\r\nPMID 28024710 reports a patient with 2 homozygous PANK2 variants (p.Asp403Val) who developed bilateral calcification of globus pallidus. \nSources: Expert list",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2023-04-20T14:47:14.025935+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.51",
"user_name": "Yetong Chen",
"item_type": "entity",
"text": "gene: MT-ATP6 was added\ngene: MT-ATP6 was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL\nPublications for gene: MT-ATP6 were set to 32042910; 29929013\nPhenotypes for gene: MT-ATP6 were set to Leigh syndrome, MIM# 256000\nReview for gene: MT-ATP6 was set to RED\nAdded comment: Limited evidence supports the causal role of the MT-ATP6 gene in brain calcification.\r\nPMID 32042910 reports a patient (patient P2) with the m.8782G>A: p.(Gly86*) variant in MT-ATP6 who developed basal ganglia calcification.\r\nPMID PMID: 29929013 reports a patient with the m.8936T > A variant in MT-ATP6 who developed brain calcification. \nSources: Expert list",
"entity_name": "MT-ATP6",
"entity_type": "gene"
}
]
}