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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1303",
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"results": [
{
"created": "2021-06-07T18:19:00.716453+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7892",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: pgm2l1 has been classified as Green List (High Evidence).",
"entity_name": "PGM2L1",
"entity_type": "gene"
},
{
"created": "2021-06-07T18:17:54.342748+10:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.7",
"user_name": "Sue White",
"item_type": "entity",
"text": "Marked gene: SLC37A4 as ready",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-06-07T18:17:54.333147+10:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.7",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: slc37a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-06-07T18:17:49.101566+10:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.7",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: SLC37A4 as Green List (high evidence)",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-06-07T18:17:49.091844+10:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.7",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: slc37a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-06-07T18:16:55.422382+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.113",
"user_name": "Sue White",
"item_type": "entity",
"text": "Marked gene: SLC37A4 as ready",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-06-07T18:16:55.412127+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.113",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: slc37a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-06-07T18:16:44.680632+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.113",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: SLC37A4 as Green List (high evidence)",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-06-07T18:16:44.670917+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.113",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: slc37a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-06-07T18:07:03.387888+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3849",
"user_name": "Sue White",
"item_type": "entity",
"text": "Marked gene: PGM2L1 as ready",
"entity_name": "PGM2L1",
"entity_type": "gene"
},
{
"created": "2021-06-07T18:07:03.377876+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3849",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: pgm2l1 has been classified as Green List (High Evidence).",
"entity_name": "PGM2L1",
"entity_type": "gene"
},
{
"created": "2021-06-07T18:06:57.145597+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3849",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: PGM2L1 as Green List (high evidence)",
"entity_name": "PGM2L1",
"entity_type": "gene"
},
{
"created": "2021-06-07T18:06:57.135433+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3849",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: pgm2l1 has been classified as Green List (High Evidence).",
"entity_name": "PGM2L1",
"entity_type": "gene"
},
{
"created": "2021-06-07T17:11:23.916111+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.1",
"user_name": "Sue White",
"item_type": "entity",
"text": "Marked gene: SLC37A4 as ready",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-06-07T17:11:23.905376+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.1",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: slc37a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-06-07T17:11:18.417572+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.1",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: SLC37A4 as Green List (high evidence)",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-06-07T17:11:18.408172+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.1",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: slc37a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-06-07T17:07:49.595267+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.92",
"user_name": "Sue White",
"item_type": "entity",
"text": "Marked gene: SLC30A5 as ready",
"entity_name": "SLC30A5",
"entity_type": "gene"
},
{
"created": "2021-06-07T17:07:49.581912+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.92",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: slc30a5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC30A5",
"entity_type": "gene"
},
{
"created": "2021-06-07T17:07:44.898130+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.92",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: SLC30A5 as Amber List (moderate evidence)",
"entity_name": "SLC30A5",
"entity_type": "gene"
},
{
"created": "2021-06-07T17:07:44.877521+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.92",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: slc30a5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC30A5",
"entity_type": "gene"
},
{
"created": "2021-06-07T17:06:43.074090+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7891",
"user_name": "Sue White",
"item_type": "entity",
"text": "Marked gene: BCAS3 as ready",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-06-07T17:06:43.064893+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7891",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: bcas3 has been classified as Green List (High Evidence).",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-06-07T17:05:39.661478+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.14",
"user_name": "Sue White",
"item_type": "entity",
"text": "Marked gene: BCAS3 as ready",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-06-07T17:05:39.651169+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.14",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: bcas3 has been classified as Green List (High Evidence).",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-06-07T17:05:34.836365+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.14",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: BCAS3 as Green List (high evidence)",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-06-07T17:05:34.824609+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.14",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: bcas3 has been classified as Green List (High Evidence).",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-06-07T17:04:23.789467+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1114",
"user_name": "Sue White",
"item_type": "entity",
"text": "Marked gene: BCAS3 as ready",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-06-07T17:04:23.778968+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1114",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: bcas3 has been classified as Green List (High Evidence).",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-06-07T17:04:17.873360+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1114",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: BCAS3 as Green List (high evidence)",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-06-07T17:04:17.862338+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1114",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: bcas3 has been classified as Green List (High Evidence).",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-06-07T17:03:06.332240+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.24",
"user_name": "Sue White",
"item_type": "entity",
"text": "Marked gene: BCAS3 as ready",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-06-07T17:03:06.322868+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.24",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: bcas3 has been classified as Green List (High Evidence).",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-06-07T17:03:01.284319+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.24",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: BCAS3 as Green List (high evidence)",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-06-07T17:03:01.274451+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.24",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: bcas3 has been classified as Green List (High Evidence).",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:59:59.831744+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.299",
"user_name": "Sue White",
"item_type": "entity",
"text": "Marked gene: BCAS3 as ready",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:59:59.817093+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.299",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: bcas3 has been classified as Green List (High Evidence).",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:59:55.635879+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.299",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: BCAS3 as Green List (high evidence)",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:59:55.625701+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.299",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: bcas3 has been classified as Green List (High Evidence).",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:59:20.636889+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7891",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: RELN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25648840; Phenotypes: Myoclonus dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:58:42.190804+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.202",
"user_name": "Sue White",
"item_type": "entity",
"text": "Marked gene: SLC30A5 as ready",
"entity_name": "SLC30A5",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:58:42.176085+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.202",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: slc30a5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC30A5",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:58:14.312400+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.202",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: SLC30A5 as Amber List (moderate evidence)",
"entity_name": "SLC30A5",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:58:14.301574+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.202",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: slc30a5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC30A5",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:57:02.954315+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.19",
"user_name": "Sue White",
"item_type": "entity",
"text": "Marked gene: LTBP1 as ready",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:57:02.938791+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.19",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: ltbp1 has been classified as Green List (High Evidence).",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:56:56.697614+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.19",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: LTBP1 as Green List (high evidence)",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:56:56.688536+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.19",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: ltbp1 has been classified as Green List (High Evidence).",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:55:27.393857+10:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.7",
"user_name": "Sue White",
"item_type": "entity",
"text": "Marked gene: LTBP1 as ready",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:55:27.382858+10:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.7",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: ltbp1 has been classified as Green List (High Evidence).",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:55:08.435678+10:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.7",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: LTBP1 as Green List (high evidence)",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:55:08.423630+10:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.7",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: ltbp1 has been classified as Green List (High Evidence).",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:52:58.016538+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3848",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: LTBP1 as Green List (high evidence)",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:52:58.006529+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3848",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: ltbp1 has been classified as Green List (High Evidence).",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:51:42.063132+10:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "1.2",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: COL9A3 as Green List (high evidence)",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:51:42.052924+10:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "1.2",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: col9a3 has been classified as Green List (High Evidence).",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:51:19.506333+10:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "1.2",
"user_name": "Sue White",
"item_type": "entity",
"text": "Marked gene: TUBA1A as ready",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:51:19.492845+10:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "1.2",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: tuba1a has been classified as Green List (High Evidence).",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:51:10.997017+10:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "1.2",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: TUBA1A as Green List (high evidence)",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:51:10.987080+10:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "1.2",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: tuba1a has been classified as Green List (High Evidence).",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:50:02.544527+10:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "1.1",
"user_name": "Sue White",
"item_type": "entity",
"text": "Marked gene: COL9A3 as ready",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:50:02.532422+10:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "1.1",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: col9a3 has been removed from the panel.",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:37:21.666740+10:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "1.1",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "gene: COL9A3 was added\ngene: COL9A3 was added to Vitreoretinopathy. Sources: Literature\nMode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: COL9A3 were set to 33633367\nPhenotypes for gene: COL9A3 were set to Peripheral vitreoretinal degeneration and retinal detachment, AD\nReview for gene: COL9A3 was set to GREEN\nAdded comment: New genotype-phenotype correlation reported in PMID: 33633367 - Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment:\r\n\r\nc.1107+1G>C and Gly130Ser\r\n\r\ncDNA studies of the splice variant demonstrated an in-frame deletion in the COL2 domain, and the missense variant occurred in the COL3 domain.\r\n\r\nIn Family 1, 14 affected individuals of Filipino/Australian ethnicity presented with vitreoretinal degeneration in a pattern suggestive of autosomal dominant inheritance (Fig. 1A). Affected individuals had extensive bilateral lattice vitreoretinal degeneration, with an abnormal vitreoretinal interface particularly at the vitreous base, where the retina was thinned and prone to tears. In Family 2 from New Zealand, three affected members of European background presented with vitreoretinal degeneration and retinal detachment, also in a pattern suggestive of autosomal dominant inheritance (Fig. 1B). In affected individuals in both families with extensive vitreoretinal degeneration, laser intervention or cryotherapy was recommended to prevent further vitreoretinal detachment or tearing. \nSources: Literature",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:31:39.419604+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.158",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: RELN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28419454, 29969175; Phenotypes: ASD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:26:11.826477+10:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "1.1",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "gene: TUBA1A was added\ngene: TUBA1A was added to Congenital ophthalmoplegia. Sources: Literature\nMode of inheritance for gene: TUBA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TUBA1A were set to 30677308\nPhenotypes for gene: TUBA1A were set to Congenital fibrosis of the extraocular muscles, AD\nReview for gene: TUBA1A was set to GREEN\nAdded comment: PMID: 30677308 New genotype-phenotype correlation - congenital fibrosis of the extraocular muscles (CFEOM), with or without malformations of cortical brain development.\r\n\r\n3 unrelated probands with CFEOM who harbored novel heterozygous TUBA1A missense variants c.1216C>G, p.(His406Asp); c.467G>A, p.(Arg156His); and c.1193T>G, p.(Met398Arg). MRI revealed small oculomotor-innervated muscles and asymmetrical caudate heads and lateral ventricles with or without corpus callosal thinning. Two of the three probands had MCD. Infantile onset.\r\n\r\nDistinct missense variants in the beta-tubulin encoding genes TUBB3 and TUBB2B cause MCD, CFEOM, or both, suggesting substitution-specific mechanisms. \nSources: Literature",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:22:26.076845+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3847",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "changed review comment from: PMID:33991472\r\n- Premature truncating variants in multiple affected individuals from 4 unrelated consanguineous families.\r\n- Affected individuals present with connective tissue features (cutis laxa and inguinal hernia), craniofacial dysmorphology, variable heart defects, and prominent skeletal features (craniosynostosis, short stature, brachydactyly, and syndactyly).\r\n- Most of the affected individuals have developmental delay and other neurological features.\r\n- Functional studies done on patient fibroblasts and zebrafish models. \nSources: Literature; to: PMID:33991472\r\n- Premature truncating variants in multiple affected individuals from 4 unrelated consanguineous families.\r\n- Affected individuals present with connective tissue features (cutis laxa and inguinal hernia), craniofacial dysmorphology, variable heart defects, and prominent skeletal features (craniosynostosis, short stature, brachydactyly, and syndactyly).\r\n- Most of the affected individuals have developmental delay and other neurological features.\r\n- Functional studies done on patient fibroblasts and zebrafish models. \r\nSources: Literature",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:21:28.720465+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3847",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: LTBP1 was added\ngene: LTBP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LTBP1 were set to 33991472\nPhenotypes for gene: LTBP1 were set to cutis laxa syndrome\nReview for gene: LTBP1 was set to GREEN\ngene: LTBP1 was marked as current diagnostic\nAdded comment: PMID:33991472\r\n- Premature truncating variants in multiple affected individuals from 4 unrelated consanguineous families.\r\n- Affected individuals present with connective tissue features (cutis laxa and inguinal hernia), craniofacial dysmorphology, variable heart defects, and prominent skeletal features (craniosynostosis, short stature, brachydactyly, and syndactyly).\r\n- Most of the affected individuals have developmental delay and other neurological features.\r\n- Functional studies done on patient fibroblasts and zebrafish models. \nSources: Literature",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:19:46.037122+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7891",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "edited their review of gene: TUBA1A: Changed phenotypes: Congenital fibrosis of the extraocular muscles, AD",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:17:37.484363+10:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.6",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: LTBP1 was added\ngene: LTBP1 was added to Cutis Laxa. Sources: Literature\nMode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LTBP1 were set to 33991472\nPhenotypes for gene: LTBP1 were set to cutis laxa syndrome\nReview for gene: LTBP1 was set to GREEN\ngene: LTBP1 was marked as current diagnostic\nAdded comment: PMID:33991472\r\n- Premature truncating variants in multiple affected individuals from 4 unrelated consanguineous families.\r\n- Affected individuals present with connective tissue features (cutis laxa and inguinal hernia), craniofacial dysmorphology, variable heart defects, and prominent skeletal features (craniosynostosis, short stature, brachydactyly, and syndactyly).\r\n- Functional studies done on patient fibroblasts and zebrafish models. \nSources: Literature",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:16:30.166746+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.18",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: LTBP1 was added\ngene: LTBP1 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LTBP1 were set to 33991472\nPhenotypes for gene: LTBP1 were set to cutis laxa syndrome\nReview for gene: LTBP1 was set to GREEN\ngene: LTBP1 was marked as current diagnostic\nAdded comment: PMID:33991472\r\n- Premature truncating variants in multiple affected individuals from 4 unrelated consanguineous families.\r\n- Affected individuals present with connective tissue features (cutis laxa and inguinal hernia), craniofacial dysmorphology, variable heart defects, and prominent skeletal features (craniosynostosis, short stature, brachydactyly, and syndactyly).\r\n- Functional studies done on patient fibroblasts and zebrafish models. \nSources: Literature",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:11:36.880453+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.201",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "gene: SLC30A5 was added\ngene: SLC30A5 was added to Hydrops fetalis. Sources: Literature\nMode of inheritance for gene: SLC30A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC30A5 were set to 33547425; 12095919\nPhenotypes for gene: SLC30A5 were set to Perinatal lethal cardiomyopathy\nReview for gene: SLC30A5 was set to AMBER\nAdded comment: Four affected children from two unrelated families with cardiomyopathy, hydrops fetalis, or cystic hygroma that all deceased perinatally. 2 different homozygous PTCs variants found. Knockout of SLC30A5 in mouse models showed reduced body growth and reduced bone density. About 60% of the mice died due to bradyarrhythmia. \nSources: Literature",
"entity_name": "SLC30A5",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:11:25.697731+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.298",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: BCAS3: Changed rating: GREEN",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:11:01.792192+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.23",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: BCAS3 was added\ngene: BCAS3 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BCAS3 were set to 34022130\nPhenotypes for gene: BCAS3 were set to Syndromic neurodevelopmental disorder\nReview for gene: BCAS3 was set to GREEN\ngene: BCAS3 was marked as current diagnostic\nAdded comment: 15 individuals from eight unrelated families with germline bi-allelic loss-of-function variants in BCAS3. All probands share a global developmental delay accompanied by pyramidal tract involvement, microcephaly, short stature, strabismus, dysmorphic facial features, and seizures. Patient fibroblasts confirmed absence of BCAS3 protein.\r\n\r\n7 patients had microcephaly (head circumference <= -3 SD) \nSources: Literature",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:10:04.094508+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.91",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "gene: SLC30A5 was added\ngene: SLC30A5 was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: SLC30A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC30A5 were set to 33547425; 12095919\nPhenotypes for gene: SLC30A5 were set to Perinatal lethal cardiomyopathy\nReview for gene: SLC30A5 was set to AMBER\nAdded comment: Four affected children from two unrelated families with cardiomyopathy, hydrops fetalis, or cystic hygroma that all deceased perinatally. 2 different homozygous PTCs variants found. Knockout of SLC30A5 in mouse models showed reduced body growth and reduced bone density. About 60% of the mice died due to bradyarrhythmia. \nSources: Literature",
"entity_name": "SLC30A5",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:09:31.739412+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.298",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: BCAS3 was added\ngene: BCAS3 was added to Callosome. Sources: Literature\nMode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BCAS3 were set to 34022130\nPhenotypes for gene: BCAS3 were set to Syndromic neurodevelopmental disorder\ngene: BCAS3 was marked as current diagnostic\nAdded comment: 15 individuals from eight unrelated families with germline bi-allelic loss-of-function variants in BCAS3. All probands share a global developmental delay accompanied by pyramidal tract involvement, microcephaly, short stature, strabismus, dysmorphic facial features, and seizures. Patient fibroblasts confirmed absence of BCAS3 protein.\r\n\r\nMost patients had thin corpus callosum. \nSources: Literature",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:08:04.608897+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1113",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: BCAS3 was added\ngene: BCAS3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BCAS3 were set to 34022130\nPhenotypes for gene: BCAS3 were set to Syndromic neurodevelopmental disorder\nReview for gene: BCAS3 was set to GREEN\ngene: BCAS3 was marked as current diagnostic\nAdded comment: 15 individuals from eight unrelated families with germline bi-allelic loss-of-function variants in BCAS3. All probands share a global developmental delay accompanied by pyramidal tract involvement, microcephaly, short stature, strabismus, dysmorphic facial features, and seizures. Patient fibroblasts confirmed absence of BCAS3 protein.\r\n\r\n8 patients had epilepsy. \nSources: Literature",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-06-07T16:05:46.506827+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.13",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: BCAS3 was added\ngene: BCAS3 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BCAS3 were set to 34022130\nPhenotypes for gene: BCAS3 were set to Syndromic neurodevelopmental disorder\nReview for gene: BCAS3 was set to GREEN\ngene: BCAS3 was marked as current diagnostic\nAdded comment: 15 individuals from eight unrelated families with germline bi-allelic loss-of-function variants in BCAS3. All probands share a global developmental delay accompanied by pyramidal tract involvement, microcephaly, short stature, strabismus, dysmorphic facial features, and seizures. Patient fibroblasts confirmed absence of BCAS3 protein.\r\n\r\nAll patients had hyperreflexia, spasticity. \nSources: Literature",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-06-07T15:55:52.051659+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.0",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: SLC37A4 was added\ngene: SLC37A4 was added to Bleeding and Platelet Disorders. Sources: Literature\nMode of inheritance for gene: SLC37A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SLC37A4 were set to 33964207\nPhenotypes for gene: SLC37A4 were set to Congenital disorder of glycosylation; liver dysfunction; coagulation deficiency\nReview for gene: SLC37A4 was set to GREEN\ngene: SLC37A4 was marked as current diagnostic\nAdded comment: 7 patients from 4 families, additional to the two reported previously, described with the same recurrent c.1267C>T (p.R423*) variant with liver dysfunction multifactorial coagulation deficiency and cardiac issues. Serum samples from affected individuals showed profound accumulation of both high mannose and hybrid type N-glycans. Hepatoma cell-line studies support the pathogenicity of the variant.\r\n\r\nNote that although most/all patients had abnormal clotting factors, only one was noted to have a history of bruising/bleeding. \nSources: Literature",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-06-07T15:55:01.847628+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3847",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: PGM2L1 was added\ngene: PGM2L1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PGM2L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PGM2L1 were set to 33979636\nPhenotypes for gene: PGM2L1 were set to Neurodevelopmental disorder\nReview for gene: PGM2L1 was set to GREEN\ngene: PGM2L1 was marked as current diagnostic\nAdded comment: PMID: 33979636:\r\n- Hom/chet PTVs in 4 unrelated individuals. All four affected individuals had severe developmental and speech delay, dysmorphic facial features, ear anomalies, high arched palate, strabismus, hypotonia, and keratosis pilaris. Early obesity and seizures were present in three individuals.\r\n- Studies on patient fibroblasts and cell lines indicated that PGM2L1 deficiency causes a decrease, but not a disappearance, of the sugar bisphosphates needed for the formation of NDP-sugars and that there is no evidence that this leads to a glycosylation defect. \nSources: Literature",
"entity_name": "PGM2L1",
"entity_type": "gene"
},
{
"created": "2021-06-07T15:54:17.260759+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.112",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: SLC37A4 was added\ngene: SLC37A4 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: SLC37A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SLC37A4 were set to 33964207\nPhenotypes for gene: SLC37A4 were set to Congenital disorder of glycosylation; liver dysfunction; coagulation deficiency\nReview for gene: SLC37A4 was set to GREEN\ngene: SLC37A4 was marked as current diagnostic\nAdded comment: 7 patients from 4 families, additional to the two reported previously, described with the same recurrent c.1267C>T (p.R423*) variant with liver dysfunction multifactorial coagulation deficiency and cardiac issues. Serum samples from affected individuals showed profound accumulation of both high mannose and hybrid type N-glycans. Hepatoma cell-line studies support the pathogenicity of the variant. \nSources: Literature",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-06-07T15:53:48.595220+10:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.6",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: SLC37A4: Changed phenotypes: Congenital disorder of glycosylation, liver dysfunction, coagulation deficiency",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-06-07T15:52:02.744683+10:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.6",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: SLC37A4 was added\ngene: SLC37A4 was added to Liver Failure_Paediatric. Sources: Literature\nMode of inheritance for gene: SLC37A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SLC37A4 were set to 33964207\nPhenotypes for gene: SLC37A4 were set to Congenital disorder of glycosylation\nReview for gene: SLC37A4 was set to GREEN\ngene: SLC37A4 was marked as current diagnostic\nAdded comment: 7 patients from 4 families, additional to the two reported previously, described with the same recurrent c.1267C>T (p.R423*) variant with liver dysfunction multifactorial coagulation deficiency and cardiac issues. Serum samples from affected individuals showed profound accumulation of both high mannose and hybrid type N-glycans. Hepatoma cell-line studies support the pathogenicity of the variant.\r\n\r\nSome patients diagnosed in adulthood but most in childhood. \nSources: Literature",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-06-07T15:45:26.694927+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7891",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: TUBA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30677308; Phenotypes: Congenital fibrosis of the extraocular muscles; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2021-06-07T15:45:13.811208+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7891",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: PGM2L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33979636; Phenotypes: Neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PGM2L1",
"entity_type": "gene"
},
{
"created": "2021-06-07T15:42:44.983422+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.12",
"user_name": "Sue White",
"item_type": "entity",
"text": "reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-06-07T15:40:58.408720+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3847",
"user_name": "Sue White",
"item_type": "entity",
"text": "Marked gene: SRCAP as ready",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2021-06-07T15:40:58.399209+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3847",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: srcap has been classified as Green List (High Evidence).",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2021-06-07T15:40:56.812165+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7891",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "PGM2L1",
"entity_type": "gene"
},
{
"created": "2021-06-07T15:40:08.180378+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7891",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: LTBP1 was added\ngene: LTBP1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LTBP1 were set to 33991472\nPhenotypes for gene: LTBP1 were set to cutis laxa syndrome\nReview for gene: LTBP1 was set to GREEN\ngene: LTBP1 was marked as current diagnostic\nAdded comment: PMID:33991472\r\n- Premature truncating variants in multiple affected individuals from 4 unrelated consanguineous families.\r\n- Affected individuals present with connective tissue features (cutis laxa and inguinal hernia), craniofacial dysmorphology, variable heart defects, and prominent skeletal features (craniosynostosis, short stature, brachydactyly, and syndactyly).\r\n- Functional studies done on patient fibroblasts and zebrafish models. \nSources: Literature",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-06-07T15:38:26.624142+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7891",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "gene: SLC30A5 was added\ngene: SLC30A5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SLC30A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC30A5 were set to 33547425; 12095919\nPhenotypes for gene: SLC30A5 were set to Perinatal lethal cardiomyopathy\nReview for gene: SLC30A5 was set to AMBER\nAdded comment: Four affected children from two unrelated families with cardiomyopathy, hydrops fetalis, or cystic hygroma that all deceased perinatally. 2 different homozygous PTCs variants found. Knockout of SLC30A5 in mouse models showed reduced body growth and reduced bone density. About 60% of the mice died due to bradyarrhythmia. \nSources: Literature",
"entity_name": "SLC30A5",
"entity_type": "gene"
},
{
"created": "2021-06-07T15:37:39.062828+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7891",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: SRCAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 33909990; Phenotypes: Floating-Harbor syndrome MIM#136140; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2021-06-07T15:37:31.120808+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3847",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: ATXN2L as Amber List (moderate evidence)",
"entity_name": "ATXN2L",
"entity_type": "gene"
},
{
"created": "2021-06-07T15:37:31.111215+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3847",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: atxn2l has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATXN2L",
"entity_type": "gene"
},
{
"created": "2021-06-07T15:37:17.721282+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.79",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: ATXN2L as Amber List (moderate evidence)",
"entity_name": "ATXN2L",
"entity_type": "gene"
},
{
"created": "2021-06-07T15:37:17.710540+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.79",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: atxn2l has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATXN2L",
"entity_type": "gene"
},
{
"created": "2021-06-07T15:36:16.578907+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3846",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: ATXN2L was added\ngene: ATXN2L was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ATXN2L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATXN2L were set to 33283965; 33057194\nPhenotypes for gene: ATXN2L were set to macrocephaly; intellectual disability\nPenetrance for gene: ATXN2L were set to Complete\nReview for gene: ATXN2L was set to AMBER\nAdded comment: Combined data from three large exome groups identified several de novo variants, including frameshift and missense, in ATXN2L in patients with developmental delay (Kaplanis et al., 2020). pLI=1.0\r\nSingle case report of a novel de novo missense variant in a child with macrocephaly and developmental delay. No functional work. \nSources: Literature",
"entity_name": "ATXN2L",
"entity_type": "gene"
},
{
"created": "2021-06-07T15:36:12.808166+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.78",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: ATXN2L was added\ngene: ATXN2L was added to Macrocephaly_Megalencephaly. Sources: Literature\nMode of inheritance for gene: ATXN2L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATXN2L were set to 33283965; 33057194\nPhenotypes for gene: ATXN2L were set to macrocephaly; intellectual disability\nPenetrance for gene: ATXN2L were set to unknown\nReview for gene: ATXN2L was set to AMBER\nAdded comment: Combined data from three large exome groups identified several de novo variants, including frameshift and missense, in ATXN2L in patients with developmental delay (Kaplanis et al., 2020). pLI=1.0\r\nSingle case report of a novel de novo missense variant in a child with macrocephaly and developmental delay. No functional work. \nSources: Literature",
"entity_name": "ATXN2L",
"entity_type": "gene"
},
{
"created": "2021-06-07T15:35:30.688308+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7891",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: COL9A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33633367; Phenotypes: Epiphyseal dysplasia, multiple, 3, with or without myopathy, AD, MIM# 600969, Stickler syndrome, AR, Deafness, AD, Peripheral vitreoretinal degeneration and retinal detachment, AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2021-06-07T15:31:03.090928+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7891",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: BCAS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34022130; Phenotypes: Syndromic neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-06-07T15:30:30.717704+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3845",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: BCAS3 was added\ngene: BCAS3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BCAS3 were set to 34022130\nPhenotypes for gene: BCAS3 were set to Syndromic neurodevelopmental disorder\nReview for gene: BCAS3 was set to GREEN\ngene: BCAS3 was marked as current diagnostic\nAdded comment: 15 individuals from eight unrelated families with germline bi-allelic loss-of-function variants in BCAS3. All probands share a global developmental delay accompanied by pyramidal tract involvement, microcephaly, short stature, strabismus, dysmorphic facial features, and seizures. Patient fibroblasts confirmed absence of BCAS3 protein. \nSources: Literature",
"entity_name": "BCAS3",
"entity_type": "gene"
}
]
}