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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=724",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=722",
"results": [
{
"created": "2022-10-06T15:14:58.913221+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.370",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: DUT as ready",
"entity_name": "DUT",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:14:58.904478+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.370",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: dut has been classified as Green List (High Evidence).",
"entity_name": "DUT",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:14:10.731618+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GABBR1 as ready",
"entity_name": "GABBR1",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:14:10.723311+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabbr1 has been classified as Green List (High Evidence).",
"entity_name": "GABBR1",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:14:00.739296+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.370",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: DUT as Green List (high evidence)",
"entity_name": "DUT",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:14:00.731124+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.370",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: dut has been classified as Green List (High Evidence).",
"entity_name": "DUT",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:13:15.051092+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.9",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: LETM1 was added\ngene: LETM1 was added to Optic Atrophy. Sources: Literature\nMode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LETM1 were set to 36055214\nPhenotypes for gene: LETM1 were set to Mitochondrial disease MONDO#0044970, LETM1-related\nReview for gene: LETM1 was set to GREEN\ngene: LETM1 was marked as current diagnostic\nAdded comment: -18 affected individuals from 11 unrelated families harbouring ultra-rare bi-allelic missense and loss-of-function LETM1 variants\r\n-Most of the affected individuals (14/18, 78%) had an infantile-onset disease manifestation,\r\nand 4/18 (22%) presented first symptoms between the ages of 1.5 and 2 years\r\n-Variant types included missense, frameshift, stop loss, in-frame deletion and splice defect\r\n-From biochemical and morphological studies, bi-allelic LETM1 variants are associated with defective mitochondrial K efflux, swollen mitochondrial matrix structures, and loss of important mitochondrial oxidative phosphorylation protein components \nSources: Literature",
"entity_name": "LETM1",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:13:06.440685+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GABBR1 as Green List (high evidence)",
"entity_name": "GABBR1",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:13:06.432639+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabbr1 has been classified as Green List (High Evidence).",
"entity_name": "GABBR1",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:12:15.115578+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GABBR1 was added\ngene: GABBR1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: GABBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GABBR1 were set to 36103875\nPhenotypes for gene: GABBR1 were set to Neurodevelopmental disorder, GABBR1-related, MONDO:0700092\nReview for gene: GABBR1 was set to GREEN\nAdded comment: Four individuals with de novo variants in this gene and varying severity of DD/ID, seizures and hypotonia. \nSources: Literature",
"entity_name": "GABBR1",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:11:52.440994+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4974",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: LETM1 was added\ngene: LETM1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LETM1 were set to 36055214\nPhenotypes for gene: LETM1 were set to Mitochondrial disease MONDO#0044970, LETM1-related\nReview for gene: LETM1 was set to GREEN\ngene: LETM1 was marked as current diagnostic\nAdded comment: -18 affected individuals from 11 unrelated families harbouring ultra-rare bi-allelic missense and loss-of-function LETM1 variants\r\n-Most of the affected individuals (14/18, 78%) had an infantile-onset disease manifestation,\r\nand 4/18 (22%) presented first symptoms between the ages of 1.5 and 2 years\r\n-Variant types included missense, frameshift, stop loss, in-frame deletion and splice defect\r\n-From biochemical and morphological studies, bi-allelic LETM1 variants are associated with defective mitochondrial K efflux, swollen mitochondrial matrix structures, and loss of important mitochondrial oxidative phosphorylation protein components \nSources: Literature",
"entity_name": "LETM1",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:09:56.081254+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1684",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36067010, 32848577; Phenotypes: polymicrogyria, macrocephaly, epilepsy, developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:09:29.609863+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.836",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: LETM1 was added\ngene: LETM1 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LETM1 were set to 36055214\nPhenotypes for gene: LETM1 were set to Mitochondrial disease MONDO#0044970, LETM1-related\nReview for gene: LETM1 was set to GREEN\ngene: LETM1 was marked as current diagnostic\nAdded comment: -18 affected individuals from 11 unrelated families harbouring ultra-rare bi-allelic missense and loss-of-function LETM1 variants\r\n-Most of the affected individuals (14/18, 78%) had an infantile-onset disease manifestation,\r\nand 4/18 (22%) presented first symptoms between the ages of 1.5 and 2 years\r\n-Variant types included missense, frameshift, stop loss, in-frame deletion and splice defect\r\n-From biochemical and morphological studies, bi-allelic LETM1 variants are associated with defective mitochondrial K efflux, swollen mitochondrial matrix structures, and loss of important mitochondrial oxidative phosphorylation protein components \nSources: Literature",
"entity_name": "LETM1",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:07:23.847235+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.369",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: DUT was added\ngene: DUT was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: DUT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DUT were set to 28073829; 35611808\nPhenotypes for gene: DUT were set to Bone marrow failure and diabetes mellitus syndrome (MIM#620044)\nReview for gene: DUT was set to GREEN\nAdded comment: Homozygous missense (p.(Tyr142Cys)) identified in eight affected individuals from four unrelated consanguineous families (French, Egyptian, two Libyan) with diabetes and bone marrow failure. DUT silencing in human and rat pancreatic b-cells results in apoptosis via the intrinsic cell death pathway.\r\n\r\np.(Tyr142Cys) has 11 heterozygotes and no homozygotes in gnomAD. \nSources: Expert list",
"entity_name": "DUT",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:06:11.504593+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.369",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: DACT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 36066768; Phenotypes: Townes-Brocks syndrome 2 MONDO:0054582; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "DACT1",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:04:17.706954+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.114",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: DACT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 36066768; Phenotypes: Townes-Brocks syndrome 2 MONDO:0054582; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "DACT1",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:04:09.286914+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1684",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: MED11 as Green List (high evidence)",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:04:09.278641+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1684",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: med11 has been classified as Green List (High Evidence).",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:03:39.503736+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1683",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: MED11 as Green List (high evidence)",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:03:39.495488+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1683",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: med11 has been classified as Green List (High Evidence).",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:03:38.360132+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.74",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: MED11 as ready",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:03:38.352032+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.74",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: med11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:03:34.641008+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1682",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: MED11 as ready",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:03:34.629915+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1682",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: med11 has been classified as Red List (Low Evidence).",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:03:20.573923+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.369",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: CENPP as ready",
"entity_name": "CENPP",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:03:20.566220+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.369",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cenpp has been classified as Red List (Low Evidence).",
"entity_name": "CENPP",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:03:09.089328+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.74",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: MED11 as Amber List (moderate evidence)",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:03:09.078897+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.74",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: med11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:02:55.555842+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.369",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "changed review comment from: Sources: Literature; to: Single family with dominant SNHL segregated through 5 family members. Truncating variant in NM_001012267.3(CENPP):c.849T>A (p.Cys283Ter). Note: misannotated as nonsense variant in paper. \r\nSources: Literature",
"entity_name": "CENPP",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:02:46.298915+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.73",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: MED11 was added\ngene: MED11 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MED11 were set to 36001086\nPhenotypes for gene: MED11 were set to neurodevelopmental disorder MONDO#0700092, MED11-related\nReview for gene: MED11 was set to AMBER\ngene: MED11 was marked as current diagnostic\nAdded comment: 7 affected from 5 families (3x consang) with the same recurrent variant of p.(Arg109*).\r\n\r\nProtein truncating, NOT NMD as proven by RT-PCR and western blot. Zebrafish knockout model recapitulates key clinical phenotypes\r\n\r\nNO evidence of founder effect from haplotype analysis \r\n\r\n7/7 cerebral dysgyria, cortical atrophy\r\n5/7 limb contracture\r\n4/7 epilepsy\r\n3/7 families with IUGR\r\n3/7 GDD\r\n3/7 hearing loss\r\n3/7 undescended testis\r\n2/7 nystagmus\r\n1/7 congenital cataract \nSources: Literature",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:02:25.744133+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.369",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CENPP was added\ngene: CENPP was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CENPP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CENPP were set to 36071244\nPhenotypes for gene: CENPP were set to autosomal dominant nonsyndromic hearing loss; MONDO:0019587\nReview for gene: CENPP was set to RED\nAdded comment: Sources: Literature",
"entity_name": "CENPP",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:02:16.462377+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1682",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: MED11 was added\ngene: MED11 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MED11 were set to 36001086\nPhenotypes for gene: MED11 were set to neurodevelopmental disorder MONDO#0700092, MED11-related\nReview for gene: MED11 was set to GREEN\ngene: MED11 was marked as current diagnostic\nAdded comment: 7 affected from 5 families (3x consang) with the same recurrent variant of p.(Arg109*).\r\n\r\nProtein truncating, NOT NMD as proven by RT-PCR and western blot. Zebrafish knockout model recapitulates key clinical phenotypes\r\n\r\nNO evidence of founder effect from haplotype analysis \r\n\r\n7/7 cerebral dysgyria, cortical atrophy\r\n5/7 limb contracture\r\n4/7 epilepsy\r\n3/7 families with IUGR\r\n3/7 GDD\r\n3/7 hearing loss\r\n3/7 undescended testis\r\n2/7 nystagmus\r\n1/7 congenital cataract \nSources: Literature",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:01:18.714248+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.22",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: DUT as ready",
"entity_name": "DUT",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:01:18.702324+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.22",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: dut has been classified as Green List (High Evidence).",
"entity_name": "DUT",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:01:14.606934+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.22",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: DUT as Green List (high evidence)",
"entity_name": "DUT",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:01:14.598727+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.22",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: dut has been classified as Green List (High Evidence).",
"entity_name": "DUT",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:00:24.177272+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4974",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: MED11 as Green List (high evidence)",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:00:24.169861+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4974",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: med11 has been classified as Green List (High Evidence).",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:00:11.068325+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.216",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: TAB2 as Green List (high evidence)",
"entity_name": "TAB2",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:00:11.060770+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.216",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tab2 has been classified as Green List (High Evidence).",
"entity_name": "TAB2",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:00:07.533657+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4974",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: MED11 as Green List (high evidence)",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2022-10-06T15:00:07.509862+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4974",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: med11 has been classified as Green List (High Evidence).",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:59:53.728070+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.355",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: MED11 as Green List (high evidence)",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:59:53.721362+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.355",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: med11 has been classified as Green List (High Evidence).",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:59:27.182419+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.355",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: MED11 as Green List (high evidence)",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:59:27.118942+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.355",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: med11 has been classified as Green List (High Evidence).",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:57:49.203983+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.137",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: TAB2 as ready",
"entity_name": "TAB2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:57:49.195661+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.137",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tab2 has been classified as Green List (High Evidence).",
"entity_name": "TAB2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:57:22.386619+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.354",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: MED11 as ready",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:57:22.379011+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.354",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: med11 has been classified as Red List (Low Evidence).",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:57:19.519574+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.137",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: TAB2 as Green List (high evidence)",
"entity_name": "TAB2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:57:19.512772+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.137",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tab2 has been classified as Green List (High Evidence).",
"entity_name": "TAB2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:57:13.099413+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.215",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: TAB2 as Green List (high evidence)",
"entity_name": "TAB2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:57:13.090485+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.215",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tab2 has been classified as Green List (High Evidence).",
"entity_name": "TAB2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:57:12.465476+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4973",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: MED11 as ready",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:57:12.449553+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4973",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: med11 has been classified as Red List (Low Evidence).",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:56:53.306088+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC13A1 as ready",
"entity_name": "SLC13A1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:56:53.288899+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc13a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC13A1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:56:35.365946+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.354",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: MED11 was added\ngene: MED11 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MED11 were set to 36001086\nPhenotypes for gene: MED11 were set to neurodevelopmental disorder MONDO#0700092, MED11-related\nReview for gene: MED11 was set to GREEN\ngene: MED11 was marked as current diagnostic\nAdded comment: 7 affected from 5 families (3x consang) with the same recurrent variant of p.(Arg109*).\r\n\r\nProtein truncating, NOT NMD as proven by RT-PCR and western blot. Zebrafish knockout model recapitulates key clinical phenotypes\r\n\r\nNO evidence of founder effect from haplotype analysis \r\n\r\n7/7 cerebral dysgyria, cortical atrophy\r\n5/7 limb contracture\r\n4/7 epilepsy\r\n3/7 families with IUGR\r\n3/7 GDD\r\n3/7 hearing loss\r\n3/7 undescended testis\r\n2/7 nystagmus\r\n1/7 congenital cataract \nSources: Literature",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:56:34.844914+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.214",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: TAB2 as Green List (high evidence)",
"entity_name": "TAB2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:56:34.816902+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.214",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tab2 has been classified as Green List (High Evidence).",
"entity_name": "TAB2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:56:32.142139+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.368",
"user_name": "Anna Ritchie",
"item_type": "entity",
"text": "gene: GABRG1 was added\ngene: GABRG1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GABRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GABRG1 were set to PMID: 36121006\nPhenotypes for gene: GABRG1 were set to Developmental and epileptic encephalopathy MONDO:0100062\nAdded comment: 2-year-old patient with epileptic encephalopathy, hypotonia, and global developmental delays. Clinical trio exome sequencing showed a novel, de novo missense variant in the GABRG1 gene. \nSources: Literature",
"entity_name": "GABRG1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:56:17.437286+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.368",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: SLC32A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36073542; Phenotypes: developmental and epileptic encephalopathy MONDO:0100062, SLC32A1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC32A1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:56:16.158197+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC13A1 as Red List (low evidence)",
"entity_name": "SLC13A1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:56:16.149385+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc13a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC13A1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:55:56.502296+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.483",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: ATP6V0C as ready",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:55:56.494439+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.483",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: atp6v0c has been classified as Green List (High Evidence).",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:55:52.993111+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4973",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: MED11 was added\ngene: MED11 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MED11 were set to 36001086\nPhenotypes for gene: MED11 were set to neurodevelopmental disorder MONDO#0700092, MED11-related\nReview for gene: MED11 was set to GREEN\ngene: MED11 was marked as current diagnostic\nAdded comment: 7 affected from 5 families (3x consang) with the same recurrent variant of p.(Arg109*).\r\n\r\nProtein truncating, NOT NMD as proven by RT-PCR and western blot. Zebrafish knockout model recapitulates key clinical phenotypes\r\n\r\nNO evidence of founder effect from haplotype analysis \r\n\r\n7/7 cerebral dysgyria, cortical atrophy\r\n5/7 limb contracture\r\n4/7 epilepsy\r\n3/7 families with IUGR\r\n3/7 GDD\r\n3/7 hearing loss\r\n3/7 undescended testis\r\n2/7 nystagmus\r\n1/7 congenital cataract \nSources: Literature",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:55:41.540157+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.213",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: TAB2 as ready",
"entity_name": "TAB2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:55:41.525288+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.213",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tab2 has been removed from the panel.",
"entity_name": "TAB2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:55:28.618824+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4973",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: MED11 was added\ngene: MED11 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MED11 were set to 36001086\nPhenotypes for gene: MED11 were set to neurodevelopmental disorder MONDO#0700092, MED11-related\nReview for gene: MED11 was set to GREEN\ngene: MED11 was marked as current diagnostic\nAdded comment: 7 affected from 5 families (3x consang) with the same recurrent variant of p.(Arg109*).\r\n\r\nProtein truncating, NOT NMD as proven by RT-PCR and western blot. Zebrafish knockout model recapitulates key clinical phenotypes\r\n\r\nNO evidence of founder effect from haplotype analysis \r\n\r\n7/7 cerebral dysgyria, cortical atrophy\r\n5/7 limb contracture\r\n4/7 epilepsy\r\n3/7 families with IUGR\r\n3/7 GDD\r\n3/7 hearing loss\r\n3/7 undescended testis\r\n2/7 nystagmus\r\n1/7 congenital cataract \nSources: Literature",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:55:06.413037+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.483",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: ATP6V0C as Green List (high evidence)",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:55:06.402638+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.483",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: atp6v0c has been classified as Green List (High Evidence).",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:55:03.035833+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1681",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: SLC32A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36073542; Phenotypes: developmental and epileptic encephalopathy MONDO:0100062, SLC32A1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC32A1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:54:48.081142+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.367",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: MED11 as ready",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:54:48.071948+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.367",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: med11 has been classified as Green List (High Evidence).",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:54:39.149715+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.367",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: MED11 as Green List (high evidence)",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:54:39.141289+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.367",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: med11 has been classified as Green List (High Evidence).",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:54:16.746717+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.366",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: LAMA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 29534211, 16790509, 29764427, 30808327, 24130771, 35419533; Phenotypes: Nephrotic syndrome, type 26 620049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:54:14.326450+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.366",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: MED11 was added\ngene: MED11 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MED11 were set to 36001086\nPhenotypes for gene: MED11 were set to neurodevelopmental disorder MONDO#0700092, MED11-related\nReview for gene: MED11 was set to GREEN\ngene: MED11 was marked as current diagnostic\nAdded comment: 7 affected from 5 families (3x consang) with the same recurrent variant of p.(Arg109*).\r\n\r\nProtein truncating, NOT NMD as proven by RT-PCR and western blot. Zebrafish knockout model recapitulates key clinical phenotypes\r\n\r\nNO evidence of founder effect from haplotype analysis \r\n\r\n7/7 cerebral dysgyria, cortical atrophy\r\n5/7 limb contracture\r\n4/7 epilepsy\r\n3/7 families with IUGR\r\n3/7 GDD\r\n3/7 hearing loss\r\n3/7 undescended testis\r\n2/7 nystagmus\r\n1/7 congenital cataract \nSources: Literature",
"entity_name": "MED11",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:53:55.799570+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1681",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: GABRG1 as ready",
"entity_name": "GABRG1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:53:55.781354+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1681",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: gabrg1 has been classified as Red List (Low Evidence).",
"entity_name": "GABRG1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:53:36.664305+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.21",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: DUT was added\ngene: DUT was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: DUT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DUT were set to 28073829; 35611808\nPhenotypes for gene: DUT were set to Bone marrow failure and diabetes mellitus syndrome (MIM#620044)\nReview for gene: DUT was set to AMBER\nAdded comment: Homozygous missense (p.(Tyr142Cys)) identified in eight affected individuals from four unrelated consanguineous families (French, Egyptian, two Libyan) with diabetes and bone marrow failure. DUT silencing in human and rat pancreatic b-cells results in apoptosis via the intrinsic cell death pathway.\r\n\r\np.(Tyr142Cys) has 11 heterozygotes and no homozygotes in gnomAD. \nSources: Expert list",
"entity_name": "DUT",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:53:25.611339+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1681",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: GABRG1 as Red List (low evidence)",
"entity_name": "GABRG1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:53:25.604127+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1681",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: gabrg1 has been classified as Red List (Low Evidence).",
"entity_name": "GABRG1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:52:50.637196+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC32A1 as ready",
"entity_name": "SLC32A1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:52:50.628258+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc32a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC32A1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:52:45.635231+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.482",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: ATP6V0C was added\ngene: ATP6V0C was added to Callosome. Sources: Literature\nMode of inheritance for gene: ATP6V0C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP6V0C were set to PMID:36074901\nPhenotypes for gene: ATP6V0C were set to neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related\nReview for gene: ATP6V0C was set to GREEN\nAdded comment: 27 individuals reported with developmental delay, early-onset seizures, and ID. Of the 21 individuals with MRIs, five had agenesis/hypoplasia of the corpus callosum, five had cerebellar vermis, and four had delayed myelination. De novo variants identified in most individuals, including missense, frameshift and a stop-loss variant. Authors present some functional studies and postulate a dominant negative mechanism. \nSources: Literature",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:52:40.708483+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC32A1 as Green List (high evidence)",
"entity_name": "SLC32A1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:52:40.700980+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc32a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC32A1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:52:02.877980+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.365",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: ATP6V0C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:36074901; Phenotypes: neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:51:43.183296+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.136",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: TAB2 was added\ngene: TAB2 was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TAB2 were set to 34456334; 36000780\nPhenotypes for gene: TAB2 were set to Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like; Congenital heart defects, nonsyndromic, 2 (MIM#614980)\nReview for gene: TAB2 was set to GREEN\ngene: TAB2 was marked as current diagnostic\nAdded comment: PMID 36000780 - 3-generation family with caudal appendage and other sacral anomalies, as well as skeletal abnormalities including hypoplasia of iliac wings and scapulae, fusion of the carpal bones, and stenosis of the spinal canal. \nSources: Literature",
"entity_name": "TAB2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:50:10.758764+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1680",
"user_name": "Anna Ritchie",
"item_type": "entity",
"text": "gene: GABRG1 was added\ngene: GABRG1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: GABRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GABRG1 were set to PMID: 36121006\nPhenotypes for gene: GABRG1 were set to developmental and epileptic encephalopathy MONDO:0100062\nReview for gene: GABRG1 was set to RED\nAdded comment: 2-year-old patient with epileptic encephalopathy, hypotonia, and global developmental delays. Clinical trio exome sequencing showed a novel, de novo missense variant in the GABRG1 gene. \nSources: Literature",
"entity_name": "GABRG1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:50:10.491524+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.365",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: ATP6V0C as Green List (high evidence)",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:50:10.484131+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.365",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: atp6v0c has been classified as Green List (High Evidence).",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:49:50.310494+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.364",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: ATP6V0C: Rating: GREEN; Mode of pathogenicity: None; Publications: 36074901; Phenotypes: neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:49:34.068681+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.213",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: TAB2 was added\ngene: TAB2 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TAB2 were set to 34456334; 36000780\nPhenotypes for gene: TAB2 were set to Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like; Congenital heart defects, nonsyndromic, 2 (MIM#614980)\nReview for gene: TAB2 was set to GREEN\ngene: TAB2 was marked as current diagnostic\nAdded comment: PMID 36000780 - 3-generation family with caudal appendage and other sacral anomalies, as well as skeletal abnormalities including hypoplasia of iliac wings and scapulae, fusion of the carpal bones, and stenosis of the spinal canal. \nSources: Literature",
"entity_name": "TAB2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:47:20.666063+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.364",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: SLC13A1 was added\ngene: SLC13A1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SLC13A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC13A1 were set to 36175384\nPhenotypes for gene: SLC13A1 were set to sulfation-related bone disorder MONDO:0019688, SLC13A1-related\nReview for gene: SLC13A1 was set to RED\nAdded comment: PMID: 36175384- 1 patient with a homozygous nonsense variant in SLC13A1. Patient has enlargements of the joints, and spondylo-epi-metaphyseal radiological abnormalities in early childhood, which improved with age. Also autistic features and hyposulfatemia and hypersulfaturia, and reduced serum cholesterol sulfate. However the variant in this individual (Arg12Ter) has 569 hets and 1 hom in gnomad.\r\n\r\nAlso this patient was homozygous for CFTR Ala455Gly which is a known pathogenic variant associated with a less severe CF phenotype. \nSources: Literature",
"entity_name": "SLC13A1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:46:23.369989+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4971",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: ATP6V0C as Green List (high evidence)",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:46:23.362244+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4971",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: atp6v0c has been classified as Green List (High Evidence).",
"entity_name": "ATP6V0C",
"entity_type": "gene"
}
]
}