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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=785",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=783",
"results": [
{
"created": "2022-08-04T17:02:10.812580+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSMC1 as ready",
"entity_name": "PSMC1",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:02:10.801332+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmc1 has been classified as Red List (Low Evidence).",
"entity_name": "PSMC1",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:02:00.799325+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSMC1 were changed from spastic paraplegia; severe developmental delay; severe intellectual disability; hearing loss; micropenis; undescended testes to 35861243; spastic paraplegia; severe developmental delay; severe intellectual disability; hearing loss; micropenis; undescended testes",
"entity_name": "PSMC1",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:01:43.942975+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.220",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: SARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 35790048; Phenotypes: neurodevelopmental disorder MONDO#070009, SARS1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:01:41.629369+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4871",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: SARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 35790048; Phenotypes: neurodevelopmental disorder MONDO#070009, SARS1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:01:40.874702+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: PSMC1 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": "PSMC1",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:01:19.389344+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PSMC1 as Red List (low evidence)",
"entity_name": "PSMC1",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:01:19.381443+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmc1 has been classified as Red List (Low Evidence).",
"entity_name": "PSMC1",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:00:58.342741+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PSMC1: Changed phenotypes: Syndromic disease MONDO:0002254, PSMC1-related",
"entity_name": "PSMC1",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:00:47.160486+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: PSMC1: Single family only, homozygous missense variant.",
"entity_name": "PSMC1",
"entity_type": "gene"
},
{
"created": "2022-08-04T17:00:30.913657+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PSMC1: Rating: RED; Mode of pathogenicity: None; Publications: 35861243; Phenotypes: Syndromic disease MONDO:0002254, PSMC1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PSMC1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:57:32.227001+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BICD2 as ready",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:57:32.216052+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bicd2 has been classified as Red List (Low Evidence).",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:57:25.251287+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BICD2 as Red List (low evidence)",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:57:25.243507+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bicd2 has been classified as Red List (Low Evidence).",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:56:40.650156+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.218",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: WARS were set to PMID: 28369220; 31321409; 31069783.",
"entity_name": "WARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:56:03.038380+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DOHH as ready",
"entity_name": "DOHH",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:56:03.026713+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.217",
"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": "2022-08-04T16:55:55.730540+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.217",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: WARS were changed from Neuronopathy, distal hereditary motor, type IX (OMIM:617721); juvenile to adult onset (15-23 years); distal wasting; distal weakness; length-dependent motor axonal degeneration to Neuronopathy, distal hereditary motor, type IX (OMIM:617721); juvenile to adult onset (15-23 years); Neurodevelopmental disorder (MONDO:0700092), WARS-related",
"entity_name": "WARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:55:40.822342+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.273",
"user_name": "Anna Ritchie",
"item_type": "entity",
"text": "gene: WARS was added\ngene: WARS was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: WARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WARS were set to PMID: 35815345 PMID: 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 severities 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": "2022-08-04T16:55:38.765736+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.26",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: KIF15 was added\ngene: KIF15 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature\nMode of inheritance for gene: KIF15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF15 were set to 28150392\nPhenotypes for gene: KIF15 were set to ?Braddock-Carey syndrome 2 - MIM#619981\nReview for gene: KIF15 was set to AMBER\nAdded comment: PMID 28150392 Sleiman et al 2017 report one individual with homozygous R501* variant (NMD-predicted) from a consanguineous family. The child had thrombocytopenia, PRS, microcephaly -3SD by age 6, dysmorphic facies, bilateral external auditory canal atresia and deafness, microphthalmia, clinodactyly, short stature. Variant absent from gnomAD. Parents confirmed to be carriers and unaffected siblings were carriers/homozygous wild-type.\r\n\r\nNo other SNVs reported in ClinVar. Variant is absent from gnomAD. Authors note phenotypic similarities with Braddock-Carey syndrome (21q22 contiguous deletion also involving RUNX1). \nSources: Literature",
"entity_name": "KIF15",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:55:19.590827+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DOHH as Green List (high evidence)",
"entity_name": "DOHH",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:55:19.580138+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.216",
"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": "2022-08-04T16:54:57.119406+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.215",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: WARS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "WARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:54:27.139607+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.214",
"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": "2022-08-04T16:54:25.951847+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4871",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: WARS as ready",
"entity_name": "WARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:54:25.939049+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4871",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: wars has been classified as Green List (High Evidence).",
"entity_name": "WARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:54:14.893822+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.141",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: KIF15 was added\ngene: KIF15 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: KIF15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF15 were set to 28150392\nPhenotypes for gene: KIF15 were set to ?Braddock-Carey syndrome 2 - MIM#619981\nReview for gene: KIF15 was set to AMBER\nAdded comment: PMID 28150392 Sleiman et al 2017 report one individual with homozygous R501* variant (NMD-predicted) from a consanguineous family. The child had thrombocytopenia, PRS, microcephaly -3SD by age 6, dysmorphic facies, bilateral external auditory canal atresia and deafness, microphthalmia, clinodactyly, short stature. Variant absent from gnomAD. Parents confirmed to be carriers and unaffected siblings were carriers/homozygous wild-type.\r\n\r\nNo other SNVs reported in ClinVar. Variant is absent from gnomAD. Authors note phenotypic similarities with Braddock-Carey syndrome (21q22 contiguous deletion also involving RUNX1). \nSources: Literature",
"entity_name": "KIF15",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:53:57.565855+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4871",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: WARS as Green List (high evidence)",
"entity_name": "WARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:53:57.555433+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4871",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: wars has been classified as Green List (High Evidence).",
"entity_name": "WARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:53:48.377370+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.138",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: RNF13 as ready",
"entity_name": "RNF13",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:53:48.369845+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.138",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: rnf13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNF13",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:53:36.436424+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLITRK2 as ready",
"entity_name": "SLITRK2",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:53:36.428782+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.213",
"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": "2022-08-04T16:53:27.933359+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLITRK2 as ready",
"entity_name": "SLITRK2",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:53:27.925728+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1642",
"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": "2022-08-04T16:53:20.806290+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLITRK2 as Green List (high evidence)",
"entity_name": "SLITRK2",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:53:20.788331+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1642",
"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": "2022-08-04T16:53:13.747065+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.213",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: BICD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35896821; Phenotypes: Neurodevelopmental disorder (MONDO#0700092), BICD2-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:52:41.681853+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.138",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: RNF13 as Amber List (moderate evidence)",
"entity_name": "RNF13",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:52:41.670705+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.138",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: rnf13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNF13",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:52:24.402560+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.213",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: KIF15: Rating: AMBER; Mode of pathogenicity: None; Publications: 28150392; Phenotypes: ?Braddock-Carey syndrome 2 - MIM#619981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF15",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:52:17.417431+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.213",
"user_name": "Anna Ritchie",
"item_type": "entity",
"text": "reviewed gene: WARS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35815345, PMID: 35790048; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), WARS-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:52:11.022806+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.138",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: RNF13 as Amber List (moderate evidence)",
"entity_name": "RNF13",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:52:11.010816+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.138",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: rnf13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNF13",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:52:05.630461+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLITRK2 as Green List (high evidence)",
"entity_name": "SLITRK2",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:52:05.620872+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.213",
"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": "2022-08-04T16:51:55.128703+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAC3 as ready",
"entity_name": "RAC3",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:51:55.117610+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": "2022-08-04T16:51:18.069902+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.212",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "KIF15",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:51:05.916456+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DOHH as ready",
"entity_name": "DOHH",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:51:05.904145+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.259",
"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": "2022-08-04T16:51:00.338589+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DOHH as Green List (high evidence)",
"entity_name": "DOHH",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:51:00.330788+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.259",
"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": "2022-08-04T16:50:45.488481+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.141",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: WARS as ready",
"entity_name": "WARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:50:45.476686+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.141",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: wars has been classified as Green List (High Evidence).",
"entity_name": "WARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:50:21.000257+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.212",
"user_name": "Hazel Phillimore",
"item_type": "entity",
"text": "gene: PSMC1 was added\ngene: PSMC1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PSMC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSMC1 were set to PMID: 35861243\nPhenotypes for gene: PSMC1 were set to spastic paraplegia; severe developmental delay; severe intellectual disability; hearing loss; micropenis; undescended testes\nMode of pathogenicity for gene: PSMC1 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: PSMC1 was set to AMBER\nAdded comment: Homozygosity mapping on one large consanguineous Bedouin kindred showed three affected children (out of the ten) to be homozygous for NM_002802.3:c.983T>C; p.(Ile328Thr). \r\n\r\nDrosophila rescue experiments were carried out. Transgenic studies using drosophila with the silenced ortholog Rpt2 gene were rescued by the human wild-type PSMC1. \r\n\r\nThree of the ten offspring of healthy consanguineous parents of Bedouin Israeli ancestry were affected with a similar phenotype of failure to thrive, developmental delay and severe intellectual disability, spastic tetraplegia with central hypotonia, chorea, as well as hearing loss. None of the three achieved verbal communication or ambulation (sitting / standing) at any age. They had mild dysmorphism of borderline dolichocephaly and microcephaly, prominent bushy eyebrows, flat midface, long nasal bridge and micrognathia. All three had micropenis with undescended testes. One of the affected (as a toddler) underwent thorough endocrinological analysis: testosterone and gonadotropin levels were low. \nSources: Literature",
"entity_name": "PSMC1",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:50:17.597360+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.212",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: KIF15 was added\ngene: KIF15 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KIF15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF15 were set to 28150392\nPhenotypes for gene: KIF15 were set to ?Braddock-Carey syndrome 2 - MIM#619981\nReview for gene: KIF15 was set to GREEN\nAdded comment: PMID 28150392 Sleiman et al 2017 report one individual with homozygous R501* variant (NMD-predicted) from a consanguineous family. The child had thrombocytopenia, PRS, microcephaly -3SD by age 6, dysmorphic facies, bilateral external auditory canal atresia and deafness, microphthalmia, clinodactyly, short stature. Variant absent from gnomAD. Parents confirmed to be carriers and unaffected siblings were carriers/homozygous wild-type.\r\n\r\nNo other SNVs reported in ClinVar. Variant is absent from gnomAD. Authors note phenotypic similarities with Braddock-Carey syndrome (21q22 contiguous deletion also involving RUNX1). \nSources: Literature",
"entity_name": "KIF15",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:49:59.495610+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.141",
"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": "2022-08-04T16:49:55.785793+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4870",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: BICD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35896821; Phenotypes: Neurodevelopmental disorder (MONDO#0700092), BICD2-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:49:52.021481+10:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.41",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: KIF15 was added\ngene: KIF15 was added to Pierre Robin Sequence. Sources: Literature\nMode of inheritance for gene: KIF15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF15 were set to 28150392\nPhenotypes for gene: KIF15 were set to ?Braddock-Carey syndrome 2 - MIM#619981\nReview for gene: KIF15 was set to AMBER\nAdded comment: PMID 28150392 Sleiman et al 2017 report one individual with homozygous R501* variant (NMD-predicted) from a consanguineous family. The child had thrombocytopenia, PRS, microcephaly -3SD by age 6, dysmorphic facies, bilateral external auditory canal atresia and deafness, microphthalmia, clinodactyly, short stature. Variant absent from gnomAD. Parents confirmed to be carriers and unaffected siblings were carriers/homozygous wild-type.\r\n\r\nNo other SNVs reported in ClinVar. Variant is absent from gnomAD. Authors note phenotypic similarities with Braddock-Carey syndrome (21q22 contiguous deletion also involving RUNX1). \nSources: Literature",
"entity_name": "KIF15",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:48:31.790307+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DOHH as ready",
"entity_name": "DOHH",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:48:31.778347+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.140",
"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": "2022-08-04T16:48:25.565907+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DOHH as Green List (high evidence)",
"entity_name": "DOHH",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:48:25.555396+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.140",
"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": "2022-08-04T16:47:45.120612+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.137",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "changed review comment from: 3 x affected siblings with hom canonical splice variant. 2 x unaffected siblings het for the variant. RT-PCR showed expression of two mis-spliced forms of RNF13 mRNA (1 with a PTC and the other with an inframe del). Functional studies on patients cells showed an absence of protein. \nSources: Literature; to: 3 x affected siblings with hom canonical splice variant. 2 x unaffected siblings het for the variant. RT-PCR showed expression of two mis-spliced forms of RNF13 mRNA (1 with a PTC and the other with an inframe del). Functional studies showed an absence of protein. \r\nSources: Literature",
"entity_name": "RNF13",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:47:23.679774+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4870",
"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": "2022-08-04T16:47:06.470807+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.13",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: KIF15 was added\ngene: KIF15 was added to Bleeding and Platelet Disorders. Sources: Literature\nMode of inheritance for gene: KIF15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF15 were set to 28150392\nPhenotypes for gene: KIF15 were set to ?Braddock-Carey syndrome 2 - MIM#619981\nReview for gene: KIF15 was set to AMBER\nAdded comment: PMID 28150392 Sleiman et al 2017 report one individual with homozygous R501* variant (NMD-predicted) from a consanguineous family. The child had thrombocytopenia, PRS, microcephaly <3 SD by age 6, dysmorphic facies, bilateral external auditory canal atresia and deafness, microphthalmia, clinodactyly, short stature. Variant absent from gnomAD. Parents confirmed to be carriers and unaffected siblings were carriers/homozygous wild-type.\r\n\r\nNo other SNVs reported in ClinVar. Variant is absent from gnomAD. Authors note phenotypic similarities with Braddock-Carey syndrome (21q22 contiguous deletion also involving RUNX1). \nSources: Literature",
"entity_name": "KIF15",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:47:01.903862+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.139",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: WARS as Green List (high evidence)",
"entity_name": "WARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:47:01.891516+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.139",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: wars has been classified as Green List (High Evidence).",
"entity_name": "WARS",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:46:20.066331+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4869",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: C18orf32 as ready",
"entity_name": "C18orf32",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:46:20.037750+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4869",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: c18orf32 has been classified as Red List (Low Evidence).",
"entity_name": "C18orf32",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:46:19.941292+10:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DOHH as ready",
"entity_name": "DOHH",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:46:19.933271+10:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "1.12",
"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": "2022-08-04T16:46:15.347216+10:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DOHH as Green List (high evidence)",
"entity_name": "DOHH",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:46:15.336132+10:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "1.12",
"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": "2022-08-04T16:46:07.741841+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4869",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: C18orf32 as Red List (low evidence)",
"entity_name": "C18orf32",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:46:07.730684+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4869",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: c18orf32 has been classified as Red List (Low Evidence).",
"entity_name": "C18orf32",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:45:25.171269+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.212",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: BMP3 as ready",
"entity_name": "BMP3",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:45:25.162594+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.212",
"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": "2022-08-04T16:45:08.639026+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.212",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: BMP3 as Amber List (moderate evidence)",
"entity_name": "BMP3",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:45:08.630738+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.212",
"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": "2022-08-04T16:44:49.433141+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.211",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: BMP3 was added\ngene: BMP3 was added to Mendeliome. 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. Additional functional work in bmp3 -/- zebra fish and some supporting evidence but not conclusive \nSources: Literature",
"entity_name": "BMP3",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:44:44.836196+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BICD2 as ready",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:44:44.828971+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bicd2 has been classified as Green List (High Evidence).",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:44:03.771639+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BICD2 as Green List (high evidence)",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:44:03.764571+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bicd2 has been classified as Green List (High Evidence).",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:43:50.145723+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.210",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: C18orf32 as ready",
"entity_name": "C18orf32",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:43:50.135774+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.210",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: c18orf32 has been classified as Red List (Low Evidence).",
"entity_name": "C18orf32",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:43:38.848491+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.210",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: C18orf32 as Red List (low evidence)",
"entity_name": "C18orf32",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:43:38.841008+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.210",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: c18orf32 has been classified as Red List (Low Evidence).",
"entity_name": "C18orf32",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:43:09.740598+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.52",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: BMP3 as ready",
"entity_name": "BMP3",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:43:09.728677+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.52",
"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": "2022-08-04T16:43:04.354972+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.52",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: BMP3 as Amber List (moderate evidence)",
"entity_name": "BMP3",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:43:04.347219+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.52",
"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": "2022-08-04T16:43:04.025243+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG5 as ready",
"entity_name": "ALG5",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:43:04.014451+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.52",
"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": "2022-08-04T16:42:57.164926+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG5 as ready",
"entity_name": "ALG5",
"entity_type": "gene"
},
{
"created": "2022-08-04T16:42:57.154087+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": "2022-08-04T16:42:55.125950+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.137",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "gene: RNF13 was added\ngene: RNF13 was added to Motor Neurone Disease. Sources: Literature\nMode of inheritance for gene: RNF13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNF13 were set to PMID: 35879052\nPhenotypes for gene: RNF13 were set to Amyotrophic lateral sclerosis\nReview for gene: RNF13 was set to AMBER\nAdded comment: 3 x affected siblings with hom canonical splice variant. 2 x unaffected siblings het for the variant. RT-PCR showed expression of two mis-spliced forms of RNF13 mRNA (1 with a PTC and the other with an inframe del). Functional studies on patients cells showed an absence of protein. \nSources: Literature",
"entity_name": "RNF13",
"entity_type": "gene"
}
]
}