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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=202",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=200",
"results": [
{
"created": "2025-07-04T20:15:29.156668+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sidt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SIDT2",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:15:24.649435+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SIDT2 as Amber List (moderate evidence)",
"entity_name": "SIDT2",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:15:24.642788+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sidt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SIDT2",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:14:57.688553+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SIDT2 was added\ngene: SIDT2 was added to Lysosomal Storage Disorder. Sources: Literature\nMode of inheritance for gene: SIDT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SIDT2 were set to 40541391\nPhenotypes for gene: SIDT2 were set to Lysosomal storage disease, MONDO:0002561, SIDT2-related\nReview for gene: SIDT2 was set to AMBER\nAdded comment: Encodes a lysosomal membrane protein involved in trafficking of RNA into the lysosome for degradation via RNAutophagy. 1 affected individual described in PMID: 40541391 with two variants in SIDT2 presenting with progressive neurological decline in childhood with poor coordination, dysarthria, ataxia, cerebellar atrophy and cognitive decline. One variant confirmed to be maternally inherited, the other inheritance was unknown due to lack of availability of family members (as such phase not confirmed). Variants were c.1586G>A (?listed as p.Arg529Trp however protein consequence should be p.Arg529Gln) and c.2032C>T|p.Arg678Trp. Functional studies of patient fibroblasts showed markers of autophagy impairment and mouse models with reduced expression of SIDT2 had signs of progressive incoordination. LOF proposed mechanism. Supportive mouse model \nSources: Literature",
"entity_name": "SIDT2",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:12:43.280463+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIDT2 as ready",
"entity_name": "SIDT2",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:12:43.274109+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sidt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SIDT2",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:12:37.509583+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SIDT2 as Amber List (moderate evidence)",
"entity_name": "SIDT2",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:12:37.503037+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sidt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SIDT2",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:12:07.607227+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIDT2 as ready",
"entity_name": "SIDT2",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:12:07.600454+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sidt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SIDT2",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:11:53.484649+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SIDT2 as Amber List (moderate evidence)",
"entity_name": "SIDT2",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:11:53.475223+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sidt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SIDT2",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:11:32.157632+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIDT2 as ready",
"entity_name": "SIDT2",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:11:32.147749+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sidt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SIDT2",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:11:26.874395+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SIDT2 as Amber List (moderate evidence)",
"entity_name": "SIDT2",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:11:26.866260+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sidt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SIDT2",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:09:49.964859+10:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SREK1 as ready",
"entity_name": "SREK1",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:09:49.958553+10:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srek1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SREK1",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:09:44.513675+10:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SREK1 as Amber List (moderate evidence)",
"entity_name": "SREK1",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:09:44.506444+10:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srek1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SREK1",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:09:35.302344+10:00",
"panel_name": "Severe early-onset obesity",
"panel_id": 3764,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SREK1 was added\ngene: SREK1 was added to Severe early-onset obesity. Sources: Literature\nMode of inheritance for gene: SREK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SREK1 were set to 40549565\nPhenotypes for gene: SREK1 were set to Prader-Willi-like syndrome, SREK1-related MONDO:0008300\nReview for gene: SREK1 was set to AMBER\nAdded comment: Three Pakistani probands from three consanguineous families identified with biallelic variants in SREK1. Affected individuals presented with hyperphagic obesity and neurodevelopmental delay. They also presented with psychological and behavioural issues and were phenotypically similar to Prader-Willi affected individuals. Further testing was conducted using human induced pluripotent stem cell (iPSC) -derived neurons followed by RNA sequencing conducted on the neurons. The results of the assay was suggestive that variants located in the RNA recognition domain (residues 19–96 and 173–256) of SREK1 downregulation of SNORD115 and SNORD116 leading to Prader-Willi-like phenotype however proper validation and controls weren't used. No relevant mouse models were identified on IMPC (international mouse phenotype consortium) to further support gene-disease association there. Gene reviewed as Amber for now as variants homozygous missense with limited other supporting data. \nSources: Literature",
"entity_name": "SREK1",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:07:58.736478+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SREK1 as ready",
"entity_name": "SREK1",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:07:58.711658+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srek1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SREK1",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:07:49.179850+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SREK1 as Amber List (moderate evidence)",
"entity_name": "SREK1",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:07:49.134194+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srek1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SREK1",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:07:24.258364+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SREK1 as ready",
"entity_name": "SREK1",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:07:24.251393+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srek1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SREK1",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:07:17.460485+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SREK1 as Amber List (moderate evidence)",
"entity_name": "SREK1",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:07:17.453451+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srek1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SREK1",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:05:46.113159+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NSUN3 were set to 27356879; 32488845",
"entity_name": "NSUN3",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:05:29.066679+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NSUN3 as Green List (high evidence)",
"entity_name": "NSUN3",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:05:29.056039+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsun3 has been classified as Green List (High Evidence).",
"entity_name": "NSUN3",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:04:15.817499+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NSUN3 as ready",
"entity_name": "NSUN3",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:04:15.805919+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsun3 has been classified as Green List (High Evidence).",
"entity_name": "NSUN3",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:04:09.385566+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NSUN3 as Green List (high evidence)",
"entity_name": "NSUN3",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:04:09.379460+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsun3 has been classified as Green List (High Evidence).",
"entity_name": "NSUN3",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:03:45.857630+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NSUN3 was added\ngene: NSUN3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NSUN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NSUN3 were set to 27356879; 32488845; 40465263\nPhenotypes for gene: NSUN3 were set to Combined oxidative phosphorylation deficiency 48, MIM# 619012\nReview for gene: NSUN3 was set to GREEN\nAdded comment: Six families reported. DD/ID can be part of the phenotype. \nSources: Literature",
"entity_name": "NSUN3",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:02:14.758073+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NSUN3 were set to 27356879; 32488845",
"entity_name": "NSUN3",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:01:51.089067+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NSUN3 as Green List (high evidence)",
"entity_name": "NSUN3",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:01:51.079085+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsun3 has been classified as Green List (High Evidence).",
"entity_name": "NSUN3",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:00:30.472223+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: METTL5 as ready",
"entity_name": "METTL5",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:00:30.448791+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mettl5 has been classified as Green List (High Evidence).",
"entity_name": "METTL5",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:00:24.723586+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: METTL5 as Green List (high evidence)",
"entity_name": "METTL5",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:00:24.716655+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mettl5 has been classified as Green List (High Evidence).",
"entity_name": "METTL5",
"entity_type": "gene"
},
{
"created": "2025-07-04T20:00:02.427511+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: METTL5 was added\ngene: METTL5 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: METTL5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: METTL5 were set to 31564433; 40500307; 29302074\nPhenotypes for gene: METTL5 were set to Intellectual developmental disorder, autosomal recessive 72, MIM# 618665\nReview for gene: METTL5 was set to GREEN\nAdded comment: Fourth family reported. Microcephaly is part of the phenotype. \nSources: Literature",
"entity_name": "METTL5",
"entity_type": "gene"
},
{
"created": "2025-07-04T19:56:24.478573+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POC5 as ready",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2025-07-04T19:56:24.470475+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: poc5 has been classified as Green List (High Evidence).",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2025-07-04T19:56:20.007719+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POC5 as Green List (high evidence)",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2025-07-04T19:56:19.997117+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: poc5 has been classified as Green List (High Evidence).",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2025-07-04T19:56:10.201514+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POC5 was added\ngene: POC5 was added to Monogenic Diabetes. Sources: Literature\nMode of inheritance for gene: POC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POC5 were set to 40590205; 29272404\nPhenotypes for gene: POC5 were set to Ciliopathy, MONDO:0005308, POC5-related\nReview for gene: POC5 was set to GREEN\nAdded comment: Twelve families reported with bi-allelic variants in this gene and rod-cone dystrophy, diabetes mellitus with severe insulin resistance and partial lipodystrophy, kidney disease, and muscle cramps. Single individual previously reported in 2018 with isolated RP. \nSources: Literature",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2025-07-04T19:55:05.705719+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POC5 as ready",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2025-07-04T19:55:05.698627+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: poc5 has been classified as Green List (High Evidence).",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2025-07-04T19:55:01.070363+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POC5 as Green List (high evidence)",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2025-07-04T19:55:01.063681+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: poc5 has been classified as Green List (High Evidence).",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2025-07-04T19:54:38.489479+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POC5 was added\ngene: POC5 was added to Lipodystrophy_Lipoatrophy. Sources: Literature\nMode of inheritance for gene: POC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POC5 were set to 40590205; 29272404\nPhenotypes for gene: POC5 were set to Ciliopathy, MONDO:0005308, POC5-related\nReview for gene: POC5 was set to GREEN\nAdded comment: Twelve families reported with bi-allelic variants in this gene and rod-cone dystrophy, diabetes mellitus with severe insulin resistance and partial lipodystrophy, kidney disease, and muscle cramps. Single individual previously reported in 2018 with isolated RP. \nSources: Literature",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2025-07-04T19:53:19.845152+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POC5 as ready",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2025-07-04T19:53:19.838360+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: poc5 has been classified as Green List (High Evidence).",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2025-07-04T19:53:15.249863+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POC5 as Green List (high evidence)",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2025-07-04T19:53:15.239324+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: poc5 has been classified as Green List (High Evidence).",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2025-07-04T19:53:03.960652+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POC5 was added\ngene: POC5 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature\nMode of inheritance for gene: POC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POC5 were set to 40590205; 29272404\nPhenotypes for gene: POC5 were set to Ciliopathy, MONDO:0005308, POC5-related\nReview for gene: POC5 was set to GREEN\nAdded comment: Twelve families reported with bi-allelic variants in this gene and rod-cone dystrophy, diabetes mellitus with severe insulin resistance and partial lipodystrophy, kidney disease, and muscle cramps. Single individual previously reported in 2018 with isolated RP. \nSources: Literature",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2025-07-04T19:51:58.663646+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POC5 were changed from Idiopathic scoliosis; retinitis pigmentosa; short stature; microcephaly; recurrent glomerulonephritis to Ciliopathy, MONDO:0005308, POC5-related; Scoliosis, MONDO:0005392, POC5-related",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2025-07-04T19:51:38.550576+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2673",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POC5 were set to 25642776; 29272404",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2025-07-04T19:51:15.683319+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 40590205, 29272404; Phenotypes: Ciliopathy, MONDO:0005308, POC5-related, Scoliosis, MONDO:0005392, POC5-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2025-07-04T19:49:10.716712+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POC5 as ready",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2025-07-04T19:49:10.707050+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: poc5 has been classified as Green List (High Evidence).",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2025-07-04T19:49:05.412726+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POC5 as Green List (high evidence)",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2025-07-04T19:49:05.406406+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: poc5 has been classified as Green List (High Evidence).",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2025-07-04T19:48:35.660800+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POC5 was added\ngene: POC5 was added to Ciliopathies. Sources: Literature\nMode of inheritance for gene: POC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POC5 were set to 40590205; 29272404\nPhenotypes for gene: POC5 were set to Ciliopathy, MONDO:0005308, POC5-related\nReview for gene: POC5 was set to GREEN\nAdded comment: Twelve families reported with bi-allelic variants in this gene and rod-cone dystrophy, diabetes mellitus with severe insulin resistance and partial lipodystrophy, kidney disease, and muscle cramps. Single individual previously reported in 2018 with isolated RP. \nSources: Literature",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2025-07-04T03:09:59.538393+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGF4 were changed from Jeune Syndrome, FGF4-related, MONDO:0018770 to Short-rib thoracic dysplasia 22 without polydactyly, MIM# 621260",
"entity_name": "FGF4",
"entity_type": "gene"
},
{
"created": "2025-07-04T03:09:38.794263+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGF4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 22 without polydactyly, MIM# 621260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FGF4",
"entity_type": "gene"
},
{
"created": "2025-07-04T03:09:07.849216+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGF4 were changed from Jeune Syndrome, FGF4-related, MONDO:0018770 to Short-rib thoracic dysplasia 22 without polydactyly, MIM# 621260",
"entity_name": "FGF4",
"entity_type": "gene"
},
{
"created": "2025-07-04T03:08:39.051945+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGF4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 22 without polydactyly, MIM# 621260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FGF4",
"entity_type": "gene"
},
{
"created": "2025-07-04T03:07:32.377403+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RDH8 as ready",
"entity_name": "RDH8",
"entity_type": "gene"
},
{
"created": "2025-07-04T03:07:32.366507+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rdh8 has been classified as Red List (Low Evidence).",
"entity_name": "RDH8",
"entity_type": "gene"
},
{
"created": "2025-07-04T03:07:21.273143+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RDH8 was added\ngene: RDH8 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RDH8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RDH8 were set to 37628710; 18048336; 22621924\nPhenotypes for gene: RDH8 were set to Stargardt disease 5, MIM# 621259\nReview for gene: RDH8 was set to RED\nAdded comment: Two siblings reported with homozygous splicing variant and Stargardt disease, some supportive functional data. \nSources: Literature",
"entity_name": "RDH8",
"entity_type": "gene"
},
{
"created": "2025-07-04T03:05:40.181304+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RDH8 as ready",
"entity_name": "RDH8",
"entity_type": "gene"
},
{
"created": "2025-07-04T03:05:40.174819+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rdh8 has been classified as Red List (Low Evidence).",
"entity_name": "RDH8",
"entity_type": "gene"
},
{
"created": "2025-07-04T03:05:30.753012+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RDH8 was added\ngene: RDH8 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature\nMode of inheritance for gene: RDH8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RDH8 were set to 37628710; 18048336; 22621924\nPhenotypes for gene: RDH8 were set to Stargardt disease 5, MIM#\t621259\nReview for gene: RDH8 was set to RED\nAdded comment: Two siblings reported with homozygous splicing variant and Stargardt disease, some supportive functional data. \nSources: Literature",
"entity_name": "RDH8",
"entity_type": "gene"
},
{
"created": "2025-07-04T02:59:36.508630+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFAP221 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 55, MIM# 279000",
"entity_name": "CFAP221",
"entity_type": "gene"
},
{
"created": "2025-07-04T02:59:16.569823+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2669",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CFAP221 were set to 31636325",
"entity_name": "CFAP221",
"entity_type": "gene"
},
{
"created": "2025-07-04T02:58:53.632200+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFAP221 as Green List (high evidence)",
"entity_name": "CFAP221",
"entity_type": "gene"
},
{
"created": "2025-07-04T02:58:53.624730+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap221 has been classified as Green List (High Evidence).",
"entity_name": "CFAP221",
"entity_type": "gene"
},
{
"created": "2025-07-04T02:54:42.285886+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFAP221 as ready",
"entity_name": "CFAP221",
"entity_type": "gene"
},
{
"created": "2025-07-04T02:54:42.278779+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap221 has been classified as Green List (High Evidence).",
"entity_name": "CFAP221",
"entity_type": "gene"
},
{
"created": "2025-07-04T02:54:37.614121+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFAP221 as Green List (high evidence)",
"entity_name": "CFAP221",
"entity_type": "gene"
},
{
"created": "2025-07-04T02:54:37.603937+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap221 has been classified as Green List (High Evidence).",
"entity_name": "CFAP221",
"entity_type": "gene"
},
{
"created": "2025-07-04T02:53:38.085221+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFAP221 was added\ngene: CFAP221 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: CFAP221 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFAP221 were set to 31636325; 39362668; 40250778; 38960684; 40272718\nPhenotypes for gene: CFAP221 were set to Ciliary dyskinesia, primary, 55, MIM# 279000\nReview for gene: CFAP221 was set to GREEN\nAdded comment: Six affected families reported, male infertility is a feature. \nSources: Literature",
"entity_name": "CFAP221",
"entity_type": "gene"
},
{
"created": "2025-07-04T02:51:05.845456+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CFAP221: Added comment: Five additional individuals reported, although two of them are homozygous for the same variant.; Changed rating: GREEN; Changed publications: 31636325, 39362668, 40250778, 38960684, 40272718; Changed phenotypes: Ciliary dyskinesia, primary, 55, MIM# 279000",
"entity_name": "CFAP221",
"entity_type": "gene"
},
{
"created": "2025-07-04T02:50:02.691445+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFAP221 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 55, MIM# 279000",
"entity_name": "CFAP221",
"entity_type": "gene"
},
{
"created": "2025-07-04T02:49:40.503835+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CFAP221 were set to PMID: 31636325",
"entity_name": "CFAP221",
"entity_type": "gene"
},
{
"created": "2025-07-04T02:49:13.446490+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFAP221 as Green List (high evidence)",
"entity_name": "CFAP221",
"entity_type": "gene"
},
{
"created": "2025-07-04T02:49:13.420547+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap221 has been classified as Green List (High Evidence).",
"entity_name": "CFAP221",
"entity_type": "gene"
},
{
"created": "2025-07-04T02:48:49.049552+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CFAP221: Rating: GREEN; Mode of pathogenicity: None; Publications: 39362668, 40250778, 38960684, 40272718; Phenotypes: Ciliary dyskinesia, primary, 55, MIM# 279000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFAP221",
"entity_type": "gene"
},
{
"created": "2025-07-03T13:55:14.459025+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.975",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: NSUN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 40465263; Phenotypes: combined oxidative phosphorylation deficiency 48 MONDO:0033566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NSUN3",
"entity_type": "gene"
},
{
"created": "2025-07-03T13:54:13.046001+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2667",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Four other unrelated families reported with biallelic variants and presented with optic neuropathy of varying severities and oxidative phosphorylation deficiency. All affected individuals presented with a range of other phenotypes including but not limited to ID/DD, cardiac abnormalities, skeletal abnormalities and hearing impairment. Two families (Family 1 and Family 3) show segregation evidence across affected individuals however consanguinity was noted.; to: Four other unrelated families reported with biallelic variants and presented with optic neuropathy of varying severities and oxidative phosphorylation deficiency. All affected individuals presented with a range of other phenotypes including but not limited to ID/DD, cardiac abnormalities, skeletal abnormalities and hearing impairment. Two families (Family 1 and Family 3) show segregation evidence across affected individuals - consanguinity was noted in both families.",
"entity_name": "NSUN3",
"entity_type": "gene"
},
{
"created": "2025-07-03T13:53:31.071879+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2667",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: NSUN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 40465263; Phenotypes: combined oxidative phosphorylation deficiency 48 MONDO:0033566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NSUN3",
"entity_type": "gene"
},
{
"created": "2025-07-03T12:47:15.688991+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.177",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: SREK1 was added\ngene: SREK1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SREK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SREK1 were set to 40549565\nPhenotypes for gene: SREK1 were set to Prader-Willi-like syndrome, SREK1-related MONDO:0008300\nReview for gene: SREK1 was set to AMBER\nAdded comment: Three Pakistani probands from three consanguineous families identified with biallelic variants in SREK1. Affected individuals presented with hyperphagic obesity and neurodevelopmental delay. They also presented with psychological and behavioural issues and were phenotypically similar to Prader-Willi affected individuals. ID/DD is a feature in the affected individuals. \r\n\r\nFurther testing was conducted using human induced pluripotent stem cell (iPSC) -derived neurons followed by RNA sequencing conducted on the neurons.\r\nThe results of the assay was suggestive that variants located in the RNA recognition domain (residues 19–96 and 173–256) of SREK1 downregulation of SNORD115 and SNORD116 leading to Prader-Willi-like phenotype however proper validation and controls weren't used.\r\n\r\nNo relevant mouse models were identified on IMPC (international mouse phenotype consortium) to further support gene-disease association there gene reviewed as Amber.\r\n\r\nVariants identified in SREK1 - AF's from gnomADv4.1 \r\nP95L - absent in gnomAD v4.1\r\nT194M - EAS PopMax AF - 0.03787% (47 hets)\r\nE601K - SAS PopMax AF - 0.01319% (12 hets) \nSources: Literature",
"entity_name": "SREK1",
"entity_type": "gene"
},
{
"created": "2025-07-03T12:45:50.218744+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2667",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: SREK1 was added\ngene: SREK1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SREK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SREK1 were set to 40549565\nPhenotypes for gene: SREK1 were set to Prader-Willi-like syndrome, SREK1-related MONDO:0008300\nReview for gene: SREK1 was set to AMBER\nAdded comment: Three Pakistani probands from three consanguineous families identified with biallelic variants in SREK1. Affected individuals presented with hyperphagic obesity and neurodevelopmental delay. They also presented with psychological and behavioural issues and were phenotypically similar to Prader-Willi affected individuals.\r\n\r\nFurther testing was conducted using human induced pluripotent stem cell (iPSC) -derived neurons followed by RNA sequencing conducted on the neurons.\r\nThe results of the assay was suggestive that variants located in the RNA recognition domain (residues 19–96 and 173–256) of SREK1 downregulation of SNORD115 and SNORD116 leading to Prader-Willi-like phenotype however proper validation and controls weren't used.\r\n\r\nNo relevant mouse models were identified on IMPC (international mouse phenotype consortium) to further support gene-disease association there gene reviewed as Amber.\r\n\r\nVariants identified in SREK1 - AF's from gnomADv4.1 \r\nP95L - absent in gnomAD v4.1\r\nT194M - EAS PopMax AF - 0.03787% (47 hets)\r\nE601K - SAS PopMax AF - 0.01319% (12 hets) \nSources: Literature",
"entity_name": "SREK1",
"entity_type": "gene"
},
{
"created": "2025-07-02T14:09:21.358168+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.38",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: SIDT2 was added\ngene: SIDT2 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: SIDT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SIDT2 were set to PMID: 40541391\nPhenotypes for gene: SIDT2 were set to Lysosomal storage disease, MONDO:0002561, SIDT2-related\nReview for gene: SIDT2 was set to AMBER\nAdded comment: Encodes a lysosomal membrane protein involved in trafficking of RNA into the lysosome for degradation via RNAutophagy.\r\n\r\n1 affected individual described in PMID: 40541391 with two variants in SIDT2 presenting with progressive neurological decline in childhood with poor coordination, dysarthria, ataxia, cerebellar atrophy and cognitive decline. One variant confirmed to be maternally inherited, the other inheritance was unknown due to lack of availability of family members (as such phase not confirmed). Variants were c.1586G>A (?listed as p.Arg529Trp however protein consequence should be p.Arg529Gln) and c.2032C>T|p.Arg678Trp.\r\n\r\nFunctional studies of patient fibroblasts showed markers of autophagy impairment and mouse models with reduced expression of SIDT2 had signs of progressive incoordination.\r\nLOF proposed mechanism. \nSources: Literature",
"entity_name": "SIDT2",
"entity_type": "gene"
},
{
"created": "2025-07-02T14:07:59.715703+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.581",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: SIDT2 was added\ngene: SIDT2 was added to Regression. Sources: Literature\nMode of inheritance for gene: SIDT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SIDT2 were set to PMID: 40541391\nPhenotypes for gene: SIDT2 were set to Lysosomal storage disease, MONDO:0002561, SIDT2-related\nReview for gene: SIDT2 was set to AMBER\nAdded comment: Encodes a lysosomal membrane protein involved in trafficking of RNA into the lysosome for degradation via RNAutophagy.\r\n\r\n1 affected individual described in PMID: 40541391 with two variants in SIDT2 presenting with progressive neurological decline in childhood with poor coordination, dysarthria, ataxia, cerebellar atrophy and cognitive decline. One variant confirmed to be maternally inherited, the other inheritance was unknown due to lack of availability of family members (as such phase not confirmed). Variants were c.1586G>A (?listed as p.Arg529Trp however protein consequence should be p.Arg529Gln) and c.2032C>T|p.Arg678Trp.\r\n\r\nFunctional studies of patient fibroblasts showed markers of autophagy impairment and mouse models with reduced expression of SIDT2 had signs of progressive incoordination.\r\nLOF proposed mechanism. \nSources: Literature",
"entity_name": "SIDT2",
"entity_type": "gene"
}
]
}