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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=786",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=784",
"results": [
{
"created": "2022-08-04T16:42:47.365784+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.51",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: BMP3 was added\ngene: BMP3 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: BMP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BMP3 were set to 35089417\nPhenotypes for gene: BMP3 were set to coloboma, MONDO:0001476; microphthalmia, MONDO:0021129\nAdded comment: Single missense variant identified segregating with disease following WES screen in a family with coloboma and/or microphthalmia in BMP3. Two additional unrelated patients identified with different missense in BMP3. Pathogenicity however largely on in-silicos, with one of the 3 missense having 29 hets in gnomAD. Additional functional work in bmp3 -/- zebra fish and some supporting evidence but not conclusive. \nSources: Literature",
"entity_name": "BMP3",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:42:35.089104+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4868",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: C18orf32 was added\ngene: C18orf32 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: C18orf32 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C18orf32 were set to PMID:35107634\nPhenotypes for gene: C18orf32 were set to Neurodevelopmental disorder (MONDO:0700092), C18orf32-related\nReview for gene: C18orf32 was set to RED\nAdded comment: Two siblings reported as affected, although sequencing only performed in one sibling, with homozygous loss-of-function variant identified. Clinical presentation included developmental delay, recurrent lower respiratory tract infections, sparse rough hair, roving eye movements, hypotonia, bilateral ankle contractures and inverted nipples. \nSources: Literature",
"entity_name": "C18orf32",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:42:34.018128+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALG5 as Green List (high evidence)",
"entity_name": "ALG5",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:42:34.006772+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg5 has been classified as Green List (High Evidence).",
"entity_name": "ALG5",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:42:16.578257+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG5 were changed from Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline to Cystic renal disease MONDO:0002473, ALG5-related; Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline",
"entity_name": "ALG5",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:41:45.805476+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.208",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "edited their review of gene: ALG5: Changed phenotypes: Cystic renal disease MONDO:0002473, ALG5-related, Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline, few or no liver cysts.",
"entity_name": "ALG5",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:41:23.936377+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BMP3 as ready",
"entity_name": "BMP3",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:41:23.921131+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmp3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BMP3",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:41:14.735049+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.26",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: BMP3 as ready",
"entity_name": "BMP3",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:41:14.723691+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.26",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: bmp3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BMP3",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:41:13.099430+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BMP3 as Amber List (moderate evidence)",
"entity_name": "BMP3",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:41:13.085628+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmp3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BMP3",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:40:27.253036+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.208",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: ALG5 was added\ngene: ALG5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ALG5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ALG5 were set to 35896117\nPhenotypes for gene: ALG5 were set to Cystic renal disease MONDO:0002473, ALG5-related\nReview for gene: ALG5 was set to GREEN\ngene: ALG5 was marked as current diagnostic\nAdded comment: PMID:35896117:\r\n- Five unrelated families, including 23 affected individuals with non-enlarged cystic kidneys and few or no liver cysts, 8 of them reached end-stage kidney disease from 62 to 91 years of age. Variant confirmed in all but one individual.\r\n- Various variant types: frameshift, nonsense, two missense, splice.\r\n- Functional studies showed haploinsufficiency is the disease mechanism. \nSources: Literature",
"entity_name": "ALG5",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:39:58.323090+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAC3 as Green List (high evidence)",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:39:58.311945+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rac3 has been classified as Green List (High Evidence).",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:38:51.349850+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.55",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "changed review comment from: Child with developmental delay, microcephaly, dysmorphic facial features, optic atrophy, lissencephaly, hypogenesis of the corpus callosum and cerebellar hypoplasia. Also short stature and underweight. Found to have a homozygous NMD predicted stop gain variant (consanguineous parents). This study reviewed previous patients and cerebellar hypoplasia seen in 3 other patients, and hypogenesis of the corpus callosum seen in 5 others but these individuals all had only 1 heterozygous variant, mostly missense. \nSources: Literature; to: Child with developmental delay, microcephaly, dysmorphic facial features, optic atrophy, lissencephaly, hypogenesis of the corpus callosum and cerebellar hypoplasia. Also short stature and underweight. Found to have a homozygous NMD predicted stop gain variant (consanguineous parents). This study reviewed previous patients and cerebellar hypoplasia seen in 3 other patients, and hypogenesis of the corpus callosum seen in 5 others but these individuals all had only 1 heterozygous variant, mostly missense. The patient in this paper appears to be a new mode of inheritance and mechanism associated with AR LOF variants (most previous variants are single heterozygous missense). This patient also appears to be the first report of lissencephaly.\r\nSources: Literature",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:38:35.057433+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.138",
"user_name": "Anna Ritchie",
"item_type": "entity",
"text": "gene: WARS was added\ngene: WARS was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: WARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WARS were set to PMID: 35815345; 35790048\nPhenotypes for gene: WARS were set to Neurodevelopmental disorder (MONDO:0700092), WARS-related\nReview for gene: WARS was set to GREEN\nAdded comment: Seven affected individuals from four families with biallelic variants, showing varying\r\nseverities of developmental delay, intellectual disability and microcephaly. Hearing impairment and, as well as brain anomalies, skeletal system, movement/gait, and behaviour were variable features. \nSources: Literature",
"entity_name": "WARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:38:27.131321+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLITRK2 as ready",
"entity_name": "SLITRK2",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:38:27.116456+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slitrk2 has been classified as Green List (High Evidence).",
"entity_name": "SLITRK2",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:37:50.649904+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALG5 as Green List (high evidence)",
"entity_name": "ALG5",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:37:50.637393+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg5 has been classified as Green List (High Evidence).",
"entity_name": "ALG5",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:37:39.905650+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.9",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: BICD2 was added\ngene: BICD2 was added to Lissencephaly and Band Heterotopia. Sources: Literature\nMode of inheritance for gene: BICD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BICD2 were set to 35896821\nPhenotypes for gene: BICD2 were set to Neurodevelopmental disorder (MONDO#0700092), BICD2-related\nReview for gene: BICD2 was set to RED\nAdded comment: Child with developmental delay, microcephaly, dysmorphic facial features, optic atrophy, lissencephaly, hypogenesis of the corpus callosum and cerebellar hypoplasia. Also short stature and underweight. Found to have a homozygous NMD predicted stop gain variant (consanguineous parents). This paper reviews previous patients and found others with brain abnormalities including cerebellar hypoplasia but it looks like lissencephaly is a new phenotype in this individual associated with AR LOF variants (most previous variants are single heterozygous missense). \nSources: Literature",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:36:42.805001+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1640",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: SLITRK2: Changed rating: GREEN",
"entity_name": "SLITRK2",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:36:38.251878+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG5 as ready",
"entity_name": "ALG5",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:36:38.240732+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg5 has been classified as Green List (High Evidence).",
"entity_name": "ALG5",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:36:35.862180+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.208",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: DOHH was added\ngene: DOHH was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: DOHH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DOHH were set to PMID: 35858628\nPhenotypes for gene: DOHH were set to Neurodevelopmental disorder, DOHH-related (MONDO#0700092)\nReview for gene: DOHH was set to GREEN\nAdded comment: Bi-allelic missense and truncating DOHH variants segregating with disease in five affected individuals from four unrelated families. Clinical features were developmental delay and/or intellectual disability (5/5), microcephaly (5/5), visual impairment (nystagmus (3/5), strabismus (3/5), and cortical visual impairment (1/5)) and congenital heart malformations (3/5 individuals). \nSources: Expert list",
"entity_name": "DOHH",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:36:35.439673+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG5 were changed from Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline to Cystic renal disease MONDO:0002473, ALG5-related; Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline",
"entity_name": "ALG5",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:36:19.269862+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1640",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: SLITRK2 was added\ngene: SLITRK2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SLITRK2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: SLITRK2 were set to 35840571\nPhenotypes for gene: SLITRK2 were set to Neurodevelopmental disorder, SLITRK2-related MONDO:0700092\ngene: SLITRK2 was marked as current diagnostic\nAdded comment: 6 missense variants and 1 nonsense variant (NOT NMD-predicted, single-exon gene) reported in 7 males and 1 female with neurodevelopmental disorders. Phenotypes included dev delay, mild to severe ID, delayed or absent speech, seizures and brain MRI anomalies (in some patients).\r\n\r\nThe nonsense variant was identified in two affected brothers but not in the mother, suggesting it was de novo in the maternal germline. The variant in the one affected female was de novo. All other variants in hemizygous males were inherited from an unaffected mother. In one case, the variant was also identified in the unaffected grandmother.\r\n\r\nFunctional studies showed some but not all variants displayed impaired membrane transport and impaired excitatory synapse-promoting effects. Conditional knockout mice exhibited impaired long-term memory and abnormal gait. \nSources: Literature",
"entity_name": "SLITRK2",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:36:07.880717+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ALG5 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None",
"entity_name": "ALG5",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:35:42.131560+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.208",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: PPFIBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35830857; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, PPFIBP1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:35:38.741592+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALG5 as Green List (high evidence)",
"entity_name": "ALG5",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:35:38.733606+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg5 has been classified as Green List (High Evidence).",
"entity_name": "ALG5",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:34:54.942592+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.208",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: SLITRK2 was added\ngene: SLITRK2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SLITRK2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: SLITRK2 were set to 35840571\nPhenotypes for gene: SLITRK2 were set to Neurodevelopmental disorder, SLITRK2-related MONDO:0700092\nReview for gene: SLITRK2 was set to GREEN\ngene: SLITRK2 was marked as current diagnostic\nAdded comment: 6 missense variants and 1 nonsense variant (NOT NMD-predicted, single-exon gene) reported in 7 males and 1 female with neurodevelopmental disorders. Phenotypes included dev delay, mild to severe ID, delayed or absent speech, seizures and brain MRI anomalies (in some patients).\r\n\r\nThe nonsense variant was identified in two affected brothers but not in the mother, suggesting it was de novo in the maternal germline. The variant in the one affected female was de novo. All other variants in hemizygous males were inherited from an unaffected mother. In one case, the variant was also identified in the unaffected grandmother.\r\n\r\nFunctional studies showed some but not all variants displayed impaired membrane transport and impaired excitatory synapse-promoting effects. Conditional knockout mice exhibited impaired long-term memory and abnormal gait. \nSources: Literature",
"entity_name": "SLITRK2",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:34:48.371695+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.258",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: DOHH was added\ngene: DOHH was added to Congenital Heart Defect. Sources: Expert list\nMode of inheritance for gene: DOHH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DOHH were set to PMID: 35858628\nPhenotypes for gene: DOHH were set to Neurodevelopmental disorder, DOHH-related (MONDO#0700092)\nReview for gene: DOHH was set to GREEN\nAdded comment: Bi-allelic missense and truncating DOHH variants segregating with disease in five affected individuals from four unrelated families. Clinical features were developmental delay and/or intellectual disability (5/5), microcephaly (5/5), visual impairment (nystagmus (3/5), strabismus (3/5), and cortical visual impairment (1/5)) and congenital heart malformations (3/5 individuals). \nSources: Expert list",
"entity_name": "DOHH",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:34:23.355599+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1640",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: RAC3 was added\ngene: RAC3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: RAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAC3 were set to 35851598\nPhenotypes for gene: RAC3 were set to Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577\nReview for gene: RAC3 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:34:13.069929+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.25",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: BMP3 was added\ngene: BMP3 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature\nMode of inheritance for gene: BMP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BMP3 were set to 35089417\nPhenotypes for gene: BMP3 were set to coloboma, MONDO:0001476; microphthalmia, MONDO:0021129\nReview for gene: BMP3 was set to AMBER\nAdded comment: Single missense variant identified segregating with disease following WES screen in a family with coloboma and/or microphthalmia in BMP3. Two additional unrelated patients identified with different missense in BMP3. Pathogenicity however largely on in-silicos, with one of the 3 missense having 29 hets in gnomAD.\r\n\r\nAdditional functional work in bmp3 -/- zebra fish and some supporting evidence but not conclusive. \nSources: Literature",
"entity_name": "BMP3",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:34:01.870041+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLITRK2 as Green List (high evidence)",
"entity_name": "SLITRK2",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:34:01.857130+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slitrk2 has been classified as Green List (High Evidence).",
"entity_name": "SLITRK2",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:33:51.816227+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.50",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "edited their review of gene: ALG5: Changed phenotypes: Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline, few or no liver cysts.",
"entity_name": "ALG5",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:33:48.244611+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.138",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: PPFIBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35830857; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, PPFIBP1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:33:43.737789+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.208",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: RFC1 were set to 30926972",
"entity_name": "RFC1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:33:40.286873+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.208",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: RFC1 were changed from Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome\tOMIM 614575 to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575",
"entity_name": "RFC1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:33:38.816116+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "1.0",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "edited their review of gene: ALG5: Changed phenotypes: Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline, few or no liver cysts.",
"entity_name": "ALG5",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:33:20.887558+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.207",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: RFC1 as Amber List (moderate evidence)",
"entity_name": "RFC1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:33:20.875187+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.207",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: rfc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RFC1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:33:20.872656+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1640",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: RAC3 was added\ngene: RAC3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: RAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAC3 were set to 35851598\nPhenotypes for gene: RAC3 were set to Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577\nReview for gene: RAC3 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:33:15.669772+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.138",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: DOHH was added\ngene: DOHH was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: DOHH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DOHH were set to PMID: 35858628\nPhenotypes for gene: DOHH were set to Neurodevelopmental disorder, DOHH-related (MONDO#0700092)\nReview for gene: DOHH was set to GREEN\nAdded comment: Bi-allelic missense and truncating DOHH variants segregating with disease in five affected individuals from four unrelated families. Clinical features were developmental delay and/or intellectual disability (5/5), microcephaly (5/5), visual impairment (nystagmus (3/5), strabismus (3/5), and cortical visual impairment (1/5)) and congenital heart malformations (3/5 individuals). \nSources: Expert list",
"entity_name": "DOHH",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:33:01.635098+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.206",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: C18orf32 was added\ngene: C18orf32 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: C18orf32 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C18orf32 were set to PMID:35107634\nPhenotypes for gene: C18orf32 were set to Neurodevelopmental disorder (MONDO:0700092), C18orf32-related\nReview for gene: C18orf32 was set to RED\nAdded comment: Two siblings reported as affected, although sequencing only performed in one sibling, with homozygous loss-of-function variant identified. Clinical presentation included developmental delay, recurrent lower respiratory tract infections, sparse rough hair, roving eye movements, hypotonia, bilateral ankle contractures and inverted nipples. \nSources: Literature",
"entity_name": "C18orf32",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:32:45.606690+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4867",
"user_name": "Anna Ritchie",
"item_type": "entity",
"text": "gene: WARS was added\ngene: WARS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: WARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WARS were set to PMID: 35815345; 35790048\nPhenotypes for gene: WARS were set to Neurodevelopmental disorder (MONDO:0700092), WARS-related\nReview for gene: WARS was set to GREEN\nAdded comment: At least seven affected individuals from four families with biallelic variants, showing varying\r\nseverities of developmental delay, intellectual disability and microcephaly. Hearing impairment and, as well as brain anomalies, skeletal system, movement/gait, and behaviour were variable features. \nSources: Literature",
"entity_name": "WARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:32:37.833399+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4867",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: PPFIBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35830857; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, PPFIBP1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:32:25.329356+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: RFC1 was changed from None to Other",
"entity_name": "RFC1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:32:07.394069+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RFC1 as Amber List (moderate evidence)",
"entity_name": "RFC1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:32:07.386615+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rfc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RFC1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:31:57.281626+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.50",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: ALG5 was added\ngene: ALG5 was added to Renal Macrocystic Disease. Sources: Literature\nMode of inheritance for gene: ALG5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ALG5 were set to 35896117\nPhenotypes for gene: ALG5 were set to Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline\nReview for gene: ALG5 was set to GREEN\ngene: ALG5 was marked as current diagnostic\nAdded comment: PMID:35896117:\r\n- Five unrelated families, including 23 affected individuals with non-enlarged cystic kidneys and few or no liver cysts, 8 of them reached end-stage kidney disease from 62 to 91 years of age. Variant confirmed in all but one individual.\r\n- Various variant types: frameshift, nonsense, two missense, splice.\r\n- Functional studies showed haploinsufficiency is the disease mechanism. \nSources: Literature",
"entity_name": "ALG5",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:31:56.453558+10:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "1.11",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: DOHH was added\ngene: DOHH was added to Congenital nystagmus. Sources: Expert list\nMode of inheritance for gene: DOHH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DOHH were set to PMID: 35858628\nPhenotypes for gene: DOHH were set to Neurodevelopmental disorder, DOHH-related (MONDO#0700092)\nReview for gene: DOHH was set to GREEN\nAdded comment: Bi-allelic missense and truncating DOHH variants segregating with disease in five affected individuals from four unrelated families. Clinical features were developmental delay and/or intellectual disability (5/5), microcephaly (5/5), visual impairment (nystagmus (3/5), strabismus (3/5), and cortical visual impairment (1/5)) and congenital heart malformations (3/5 individuals). \nSources: Expert list",
"entity_name": "DOHH",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:31:05.445476+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPFIBP1 were set to https://www.medrxiv.org/content/10.1101/2022.04.04.22273309v1",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:31:01.286998+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.55",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: BICD2 was added\ngene: BICD2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: BICD2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: BICD2 were set to 35896821\nPhenotypes for gene: BICD2 were set to Neurodevelopmental disorder, BICD2-related (MONDO#0700092)\nReview for gene: BICD2 was set to GREEN\nAdded comment: Child with developmental delay, microcephaly, dysmorphic facial features, optic atrophy, lissencephaly, hypogenesis of the corpus callosum and cerebellar hypoplasia. Also short stature and underweight. Found to have a homozygous NMD predicted stop gain variant (consanguineous parents). This study reviewed previous patients and cerebellar hypoplasia seen in 3 other patients, and hypogenesis of the corpus callosum seen in 5 others but these individuals all had only 1 heterozygous variant, mostly missense. \nSources: Literature",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:30:29.302774+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "1.0",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: ALG5 was added\ngene: ALG5 was added to Polycystic liver disease. Sources: Literature\nMode of inheritance for gene: ALG5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ALG5 were set to 35896117\nPhenotypes for gene: ALG5 were set to Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline\nMode of pathogenicity for gene: ALG5 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: ALG5 was set to GREEN\ngene: ALG5 was marked as current diagnostic\nAdded comment: PMID:35896117:\r\n- Five unrelated families, including 23 affected individuals with non-enlarged cystic kidneys and few or no liver cysts, 8 of them reached end-stage kidney disease from 62 to 91 years of age. Variant confirmed in all but one individual.\r\n- Various variant types: frameshift, nonsense, two missense, splice.\r\n- Functional studies showed haploinsufficiency is the disease mechanism. \nSources: Literature",
"entity_name": "ALG5",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:30:26.815708+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1638",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: ADGRL1 as Amber List (moderate evidence)",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:30:26.804030+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1638",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: adgrl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:29:59.396505+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.206",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: ADGRL1 as Green List (high evidence)",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:29:59.386199+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.206",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: adgrl1 has been classified as Green List (High Evidence).",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:29:56.327959+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.178",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: RAC3 as ready",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:29:56.315155+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.178",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: rac3 has been classified as Green List (High Evidence).",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:29:54.128590+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DOHH as ready",
"entity_name": "DOHH",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:29:54.119143+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dohh has been classified as Green List (High Evidence).",
"entity_name": "DOHH",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:29:39.494400+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADGRL1 as ready",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:29:39.465182+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adgrl1 has been classified as Green List (High Evidence).",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:29:30.736818+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DOHH as Green List (high evidence)",
"entity_name": "DOHH",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:29:30.725398+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dohh has been classified as Green List (High Evidence).",
"entity_name": "DOHH",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:29:29.874915+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.178",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: RAC3 as Green List (high evidence)",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:29:29.847456+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.178",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: rac3 has been classified as Green List (High Evidence).",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:29:25.419003+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4867",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: SLITRK2 was added\ngene: SLITRK2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SLITRK2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: SLITRK2 were set to 35840571\nPhenotypes for gene: SLITRK2 were set to Neurodevelopmental disorder, SLITRK2-related MONDO:0700092\nReview for gene: SLITRK2 was set to GREEN\ngene: SLITRK2 was marked as current diagnostic\nAdded comment: 6 missense variants and 1 nonsense variant (NOT NMD-predicted, single-exon gene) reported in 7 males and 1 female with neurodevelopmental disorders. Phenotypes included dev delay, mild to severe ID, delayed or absent speech, seizures and brain MRI anomalies (in some patients).\r\n\r\nThe nonsense variant was identified in two affected brothers but not in the mother, suggesting it was de novo in the maternal germline. The variant in the one affected female was de novo. All other variants in hemizygous males were inherited from an unaffected mother. In one case, the variant was also identified in the unaffected grandmother.\r\n\r\nFunctional studies showed some but not all variants displayed impaired membrane transport and impaired excitatory synapse-promoting effects. Conditional knockout mice exhibited impaired long-term memory and abnormal gait. \nSources: Literature",
"entity_name": "SLITRK2",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:29:11.786664+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.178",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: RAC3 as Green List (high evidence)",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:29:11.763890+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.178",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: rac3 has been classified as Green List (High Evidence).",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:29:11.319357+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADGRL1 as Green List (high evidence)",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:29:11.288068+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adgrl1 has been classified as Green List (High Evidence).",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:29:07.247121+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.205",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: RFC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 35883251; Phenotypes: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RFC1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:29:02.838663+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1637",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: ADGRL1 as Amber List (moderate evidence)",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:29:02.826840+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1637",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: adgrl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:28:41.910885+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1637",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: ADGRL1 as Amber List (moderate evidence)",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:28:41.845351+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1637",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: adgrl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:28:25.721379+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4866",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ADGRL1 as ready",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:28:25.712641+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4866",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: adgrl1 has been classified as Green List (High Evidence).",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:28:05.635949+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.205",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: ADGRL1 as Green List (high evidence)",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:28:05.626629+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.205",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: adgrl1 has been classified as Green List (High Evidence).",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:28:03.078526+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADGRL1 as Green List (high evidence)",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:28:03.064349+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adgrl1 has been classified as Green List (High Evidence).",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:27:50.645779+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.204",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ADGRL1 as ready",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:27:50.633413+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.204",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: adgrl1 has been classified as Red List (Low Evidence).",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:27:42.613597+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1636",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ADGRL1 as ready",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:27:42.600098+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1636",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: adgrl1 has been classified as Red List (Low Evidence).",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:27:34.281442+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4866",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: ADGRL1 as Green List (high evidence)",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:27:34.272619+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4866",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: adgrl1 has been classified as Green List (High Evidence).",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:27:31.317269+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.177",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: RAC3 was added\ngene: RAC3 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: RAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAC3 were set to 35851598\nPhenotypes for gene: RAC3 were set to Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577\nReview for gene: RAC3 was set to GREEN\nAdded comment: Polymicrogyria commonly reported in cohort of 10 patients \nSources: Literature",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:27:26.168054+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.128",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: RFC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 35883251; Phenotypes: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RFC1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:27:09.807279+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1636",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: PPFIBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35830857; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, PPFIBP1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PPFIBP1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:26:19.065495+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1636",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: ADGRL1 was added\ngene: ADGRL1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: ADGRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ADGRL1 were set to PMID: 35907405\nPhenotypes for gene: ADGRL1 were set to Neurodevelopmental disorder, ADGRL1-related (MONDO#0700092)\nReview for gene: ADGRL1 was set to AMBER\nAdded comment: PMID: 35907405 - 9 patients, only had epilepsy (2/9).\r\n\r\nHet null mouse model shows neurological and developmental abnormalities, with hom null mice non-viable. \nSources: Literature",
"entity_name": "ADGRL1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:25:27.515860+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4865",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: DOHH was added\ngene: DOHH was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: DOHH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DOHH were set to PMID: 35858628\nPhenotypes for gene: DOHH were set to Neurodevelopmental disorder, DOHH-related (MONDO#0700092)\nReview for gene: DOHH was set to GREEN\nAdded comment: Bi-allelic missense and truncating DOHH variants segregating with disease in five affected individuals from four unrelated families. Clinical features were developmental delay and/or intellectual disability (5/5), microcephaly (5/5), visual impairment (nystagmus (3/5), strabismus (3/5), and cortical visual impairment (1/5)) and congenital heart malformations (3/5 individuals). \nSources: Expert list",
"entity_name": "DOHH",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:25:21.609398+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.204",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: ADGRL1 was added\ngene: ADGRL1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ADGRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ADGRL1 were set to PMID: 35907405\nPhenotypes for gene: ADGRL1 were set to Neurodevelopmental disorder, ADGRL1-related (MONDO#0700092)\nReview for gene: ADGRL1 was set to GREEN\nAdded comment: PMID: 35907405 - 9 patients w/ ADHD (3/9), autism (4/9), mild-moderate ID (5/9) and epilepsy (2/9) and facial dysmorphism (7/9). Variants include missense (4) and PTCs (5), and were either de novo (7/9) or inherited from parents with learning difficulties/ID (2/9).\r\n\r\nFunctional studies on both PTCs and missense variants show significant reductions in calcium signalling and surface protein.\r\n\r\nHet null mouse model shows neurological and developmental abnormalities, with hom null mice non-viable. \nSources: Literature",
"entity_name": "ADGRL1",
"entity_type": "gene"
}
]
}