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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=176",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=174",
"results": [
{
"created": "2025-09-04T17:04:32.319517+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM17 were set to Pre-print: Clinical Genetics, 2025; 0:1–7",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:04:14.124016+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM17: Rating: AMBER; Mode of pathogenicity: None; Publications: 40841990; Phenotypes: Meckel syndrome MONDO:0018921, TMEM17-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:03:44.912307+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM17 were set to 40841990",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:03:33.589318+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM17 were set to Pre-print: Clinical Genetics, 2025; 0:1–7",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:03:11.479216+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.322",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "reviewed gene: SDHAF2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:03:07.379460+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM17: Rating: AMBER; Mode of pathogenicity: None; Publications: 40841990; Phenotypes: Meckel syndrome MONDO:0018921, TMEM17-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:01:33.287479+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TEX44 as ready",
"entity_name": "TEX44",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:01:33.276281+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tex44 has been classified as Green List (High Evidence).",
"entity_name": "TEX44",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:01:25.330624+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.322",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "commented on gene: SDHD: Would you like this gene added to the imprinted gene list? \r\nNote gene in incidentalome.",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:01:08.556263+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TEX44 as Green List (high evidence)",
"entity_name": "TEX44",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:01:08.544868+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tex44 has been classified as Green List (High Evidence).",
"entity_name": "TEX44",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:00:56.054745+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TEX44 was added\ngene: TEX44 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TEX44 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TEX44 were set to 40849303\nPhenotypes for gene: TEX44 were set to Spermatogenic failure, MONDO:0004983, TEX44-related\nReview for gene: TEX44 was set to GREEN\nAdded comment: Six individuals with biallelic variants, mouse model and other functional data support this gene-disease relationship. \nSources: Literature",
"entity_name": "TEX44",
"entity_type": "gene"
},
{
"created": "2025-09-04T17:00:12.716665+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.322",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "reviewed gene: SDHD: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:59:18.247918+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TEX44 as ready",
"entity_name": "TEX44",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:59:18.236001+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tex44 has been classified as Green List (High Evidence).",
"entity_name": "TEX44",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:59:18.134163+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TEX44 as ready",
"entity_name": "TEX44",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:59:18.122752+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tex44 has been classified as Green List (High Evidence).",
"entity_name": "TEX44",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:58:46.703600+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TEX44 were set to ",
"entity_name": "TEX44",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:58:37.800396+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TEX44 as Green List (high evidence)",
"entity_name": "TEX44",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:58:37.790182+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tex44 has been classified as Green List (High Evidence).",
"entity_name": "TEX44",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:58:29.804309+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TEX44: Changed publications: 40849303",
"entity_name": "TEX44",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:58:19.793297+10:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TEX44 was added\ngene: TEX44 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: TEX44 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TEX44 were set to Spermatogenic failure, MONDO:0004983, TEX44-related\nReview for gene: TEX44 was set to GREEN\nAdded comment: Six individuals with biallelic variants, mouse model and other functional data support this gene-disease relationship. \nSources: Literature",
"entity_name": "TEX44",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:53:10.588043+10:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADA2: Added comment: PMID 40864493 : Ten patients from seven kindreds presenting with a phenotype indicative of DADA2, in whom only a single pathogenic variant was identified. Studies involving ADA2 protein expression, secretion, and enzymatic activity indicate that p.G47A, p.G47R, p.G47V, p.R169Q, p.E328K, p.H424N, and p.Y453C exert a dominant negative effect on ADA2 enzymatic activity, dimerization, and/or secretion. New MOI and mechanism.; Changed publications: 24552284, 24552285, 33791889, 40864493; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:52:52.992810+10:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADA2 as ready",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:52:52.982955+10:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ada2 has been classified as Green List (High Evidence).",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:52:49.998331+10:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADA2 were set to ",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:52:33.218329+10:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADA2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:51:32.699723+10:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADA2 were set to 24552284; 24552285",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:51:09.959836+10:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADA2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:50:43.985452+10:00",
"panel_name": "Autoinflammatory Disorders",
"panel_id": 238,
"panel_version": "2.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADA2: Added comment: PMID 40864493 : Ten patients from seven kindreds presenting with a phenotype indicative of DADA2, in whom only a single pathogenic variant was identified. Studies involving ADA2 protein expression, secretion, and enzymatic activity indicate that p.G47A, p.G47R, p.G47V, p.R169Q, p.E328K, p.H424N, and p.Y453C exert a dominant negative effect on ADA2 enzymatic activity, dimerization, and/or secretion. New MOI and mechanism.; Changed publications: 24552284, 24552285, 33791889, 40864493; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:50:02.282983+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADA2 were set to 24552284; 24552285; 33791889",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:49:41.807551+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADA2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:49:14.614565+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADA2: Added comment: PMID 40864493 : Ten patients from seven kindreds presenting with a phenotype indicative of DADA2, in whom only a single pathogenic variant was identified. Studies involving ADA2 protein expression, secretion, and enzymatic activity indicate that p.G47A, p.G47R, p.G47V, p.R169Q, p.E328K, p.H424N, and p.Y453C exert a dominant negative effect on ADA2 enzymatic activity, dimerization, and/or secretion. New MOI and mechanism.; Changed publications: 24552284, 24552285, 33791889, 40864493; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:46:46.644145+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTC1 as ready",
"entity_name": "TTC1",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:46:46.632980+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc1 has been classified as Red List (Low Evidence).",
"entity_name": "TTC1",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:46:32.195814+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADA2 were set to 24552284; 24552285; 33791889",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:46:15.843602+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADA2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:43:54.772163+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADA2: Added comment: PMID 40864493 : Ten patients from seven kindreds presenting with a phenotype indicative of DADA2, in whom only a single pathogenic variant was identified. Studies involving ADA2 protein expression, secretion, and enzymatic activity indicate that p.G47A, p.G47R, p.G47V, p.R169Q, p.E328K, p.H424N, and p.Y453C exert a dominant negative effect on ADA2 enzymatic activity, dimerization, and/or secretion. New MOI and mechanism.; Changed publications: 24552284, 24552285, 33791889, 40864493; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:40:38.227816+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FSCN1 as ready",
"entity_name": "FSCN1",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:40:38.220233+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fscn1 has been classified as Red List (Low Evidence).",
"entity_name": "FSCN1",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:40:29.657671+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FSCN1 was added\ngene: FSCN1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FSCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FSCN1 were set to 40874942\nPhenotypes for gene: FSCN1 were set to Neurodevelopmental disorder, MONDO:0700092, FSCN1-related\nReview for gene: FSCN1 was set to RED\nAdded comment: Two individuals reported in an Iranian cohort with same missense variant, c.665C>A; p.Ala222Asp, plus other circumstantial data. \nSources: Literature",
"entity_name": "FSCN1",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:36:07.852223+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FSCN1 as ready",
"entity_name": "FSCN1",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:36:07.839653+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fscn1 has been classified as Red List (Low Evidence).",
"entity_name": "FSCN1",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:35:54.938883+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FSCN1 was added\ngene: FSCN1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: FSCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FSCN1 were set to 40874942\nPhenotypes for gene: FSCN1 were set to Neurodevelopmental disorder, MONDO:0700092, FSCN1-related\nReview for gene: FSCN1 was set to RED\nAdded comment: Two individuals reported from an Iranian cohort with same missense variant, c.665C>A; p.Ala222Asp plus other circumstantial data. \nSources: Literature",
"entity_name": "FSCN1",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:32:24.116085+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTC1 was added\ngene: TTC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TTC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTC1 were set to 40879651\nPhenotypes for gene: TTC1 were set to Pontocerebellar hypoplasia, MONDO:0020135, TTC1-related\nReview for gene: TTC1 was set to RED\nAdded comment: Four individuals from two families reported with the same homozygous missense variant, NM_003314.3: c.784 T > G, p.Phe262Val. No other supporting data. \nSources: Literature",
"entity_name": "TTC1",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:30:12.637870+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTC1 as ready",
"entity_name": "TTC1",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:30:12.629948+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc1 has been classified as Red List (Low Evidence).",
"entity_name": "TTC1",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:29:27.392756+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTC1 was added\ngene: TTC1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TTC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTC1 were set to 40879651\nPhenotypes for gene: TTC1 were set to Pontocerebellar hypoplasia, MONDO:0020135, TTC1-related\nReview for gene: TTC1 was set to RED\nAdded comment: Four individuals from two families reported with the same homozygous missense variant, NM_003314.3: c.784 T > G, p.Phe262Val. No other supporting data. \nSources: Literature",
"entity_name": "TTC1",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:27:41.869417+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAEA as ready",
"entity_name": "MAEA",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:27:41.851269+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: maea has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAEA",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:27:29.574083+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTC1 as ready",
"entity_name": "TTC1",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:27:29.565894+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc1 has been classified as Red List (Low Evidence).",
"entity_name": "TTC1",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:27:15.469696+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTC1 was added\ngene: TTC1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: TTC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTC1 were set to 40879651\nPhenotypes for gene: TTC1 were set to Pontocerebellar hypoplasia, MONDO:0020135, TTC1-related\nReview for gene: TTC1 was set to RED\nAdded comment: Four individuals from two families reported with the same homozygous missense variant, NM_003314.3: c.784 T > G, p.Phe262Val. No other supporting data. \nSources: Literature",
"entity_name": "TTC1",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:24:23.414343+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAEA as Amber List (moderate evidence)",
"entity_name": "MAEA",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:24:23.407427+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: maea has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAEA",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:23:18.533011+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAEA was added\ngene: MAEA was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: MAEA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAEA were set to 40880485\nPhenotypes for gene: MAEA were set to Neurodevelopmental disorder, MONDO:0700092, MAEA-related\nReview for gene: MAEA was set to AMBER\nAdded comment: At least 4 individuals with de novo missense variants in this gene reported as part of large DDD papers. PMID 40880485 presents extensive data showing that loss of MAEA impairs RAD51 recruitment at stalled replication forks, leading to increased sensitivity to replication stress-inducing agents and excessive degradation of nascent DNA strands. Amber rating as scant detail on the affected individuals. \nSources: Literature",
"entity_name": "MAEA",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:21:45.137371+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAEA as ready",
"entity_name": "MAEA",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:21:45.125381+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: maea has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAEA",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:21:38.235352+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAEA as Amber List (moderate evidence)",
"entity_name": "MAEA",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:21:38.228432+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: maea has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAEA",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:21:09.696056+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAEA was added\ngene: MAEA was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MAEA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAEA were set to 40880485\nPhenotypes for gene: MAEA were set to Neurodevelopmental disorder, MONDO:0700092, MAEA-related\nReview for gene: MAEA was set to AMBER\nAdded comment: At least 4 individuals with de novo missense variants in this gene reported as part of large DDD papers. PMID 40880485 presents extensive data showing that loss of MAEA impairs RAD51 recruitment at stalled replication forks, leading to increased sensitivity to replication stress-inducing agents and excessive degradation of nascent DNA strands. Amber rating as scant detail on the affected individuals. \nSources: Literature",
"entity_name": "MAEA",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:20:16.316707+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least 4 individuals with de novo missense variants in this gene reported as part of large DDD papers. PMID 40880485 presents extensive data showing that loss of MAEA impairs RAD51 recruitment at stalled replication forks, leading to increased sensitivity to replication stress-inducing agents and excessive degradation of nascent DNA strands. \nSources: Literature; to: At least 4 individuals with de novo missense variants in this gene reported as part of large DDD papers. PMID 40880485 presents extensive data showing that loss of MAEA impairs RAD51 recruitment at stalled replication forks, leading to increased sensitivity to replication stress-inducing agents and excessive degradation of nascent DNA strands. Amber rating as scant detail on the affected individuals.\r\nSources: Literature",
"entity_name": "MAEA",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:19:49.974776+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAEA as ready",
"entity_name": "MAEA",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:19:49.967792+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: maea has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAEA",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:19:12.151762+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAEA as Amber List (moderate evidence)",
"entity_name": "MAEA",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:19:12.140483+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: maea has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAEA",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:18:38.780020+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAEA was added\ngene: MAEA was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MAEA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAEA were set to 40880485\nPhenotypes for gene: MAEA were set to Neurodevelopmental disorder, MONDO:0700092, MAEA-related\nReview for gene: MAEA was set to AMBER\nAdded comment: At least 4 individuals with de novo missense variants in this gene reported as part of large DDD papers. PMID 40880485 presents extensive data showing that loss of MAEA impairs RAD51 recruitment at stalled replication forks, leading to increased sensitivity to replication stress-inducing agents and excessive degradation of nascent DNA strands. \nSources: Literature",
"entity_name": "MAEA",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:06:12.885222+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NIN were set to 22933543",
"entity_name": "NIN",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:05:56.966226+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NIN: Added comment: PMID 40751525: second affected individual but homozygous inframe deletion.; Changed publications: 22933543, 40751525",
"entity_name": "NIN",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:04:49.929316+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NIN were set to 22933543",
"entity_name": "NIN",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:04:27.370449+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NIN: Added comment: PMID 40751525: second affected individual but homozygous inframe deletion.; Changed publications: 22933543, 40751525",
"entity_name": "NIN",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:01:58.112038+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SYNE2 were set to 32184094; 17761684",
"entity_name": "SYNE2",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:01:41.080349+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SYNE2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SYNE2",
"entity_type": "gene"
},
{
"created": "2025-09-04T16:01:24.557769+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SYNE2: Rating: RED; Mode of pathogenicity: None; Publications: 40757551; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SYNE2",
"entity_type": "gene"
},
{
"created": "2025-09-04T15:58:31.522340+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EMP2 were changed from nephrotic syndrome, type 10 MONDO:0014373 to nephrotic syndrome, type 10 MONDO:0014373; Ichthyosis, MONDO:0019269, EMP2-related",
"entity_name": "EMP2",
"entity_type": "gene"
},
{
"created": "2025-09-04T15:58:13.118493+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EMP2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EMP2",
"entity_type": "gene"
},
{
"created": "2025-09-04T15:57:45.430902+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EMP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 40758889; Phenotypes: Ichthyosis, MONDO:0019269, EMP2-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EMP2",
"entity_type": "gene"
},
{
"created": "2025-09-04T15:56:46.245556+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EMP2 as ready",
"entity_name": "EMP2",
"entity_type": "gene"
},
{
"created": "2025-09-04T15:56:46.235600+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EMP2",
"entity_type": "gene"
},
{
"created": "2025-09-04T15:56:41.916345+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EMP2 as Amber List (moderate evidence)",
"entity_name": "EMP2",
"entity_type": "gene"
},
{
"created": "2025-09-04T15:56:41.905266+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EMP2",
"entity_type": "gene"
},
{
"created": "2025-09-04T15:56:02.209161+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EMP2 was added\ngene: EMP2 was added to Ichthyosis. Sources: Literature\nMode of inheritance for gene: EMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EMP2 were set to 40758889\nPhenotypes for gene: EMP2 were set to Ichthyosis, MONDO:0019269, EMP2-related\nReview for gene: EMP2 was set to AMBER\nAdded comment: Recurrent de novo missense variant associated with progressive symmetric erythrokeratoderma, mechanism appears GoF. \nSources: Literature",
"entity_name": "EMP2",
"entity_type": "gene"
},
{
"created": "2025-09-04T15:01:46.695297+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZPR1 were set to 29851065",
"entity_name": "ZPR1",
"entity_type": "gene"
},
{
"created": "2025-09-04T15:01:05.949389+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ZPR1: Added comment: PMID 40776660: new family reported with two sibs, same homozygous founder variant.; Changed publications: 29851065, 40776660",
"entity_name": "ZPR1",
"entity_type": "gene"
},
{
"created": "2025-09-04T14:59:04.683612+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTL as ready",
"entity_name": "TTL",
"entity_type": "gene"
},
{
"created": "2025-09-04T14:59:04.675531+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttl has been classified as Red List (Low Evidence).",
"entity_name": "TTL",
"entity_type": "gene"
},
{
"created": "2025-09-04T14:58:55.188294+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTL was added\ngene: TTL was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature\nMode of inheritance for gene: TTL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TTL were set to 40779454\nPhenotypes for gene: TTL were set to Hypertrophic cardiomyopathy, MONDO:0005045, TTL-related\nReview for gene: TTL was set to RED\nAdded comment: Single case report, missense variant with functional data. \nSources: Literature",
"entity_name": "TTL",
"entity_type": "gene"
},
{
"created": "2025-09-04T14:57:04.337973+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.273",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: CSMD2 as ready",
"entity_name": "CSMD2",
"entity_type": "gene"
},
{
"created": "2025-09-04T14:57:04.317694+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.273",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: csmd2 has been classified as Red List (Low Evidence).",
"entity_name": "CSMD2",
"entity_type": "gene"
},
{
"created": "2025-09-04T14:56:54.382659+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.273",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: PMID: 40632521 Li et al 2025 (Epilepsia) reported 6 unrelated individuals of Han Chinese descent with biallelic CSMD2 missense variants (NM_052896) and focal epilepsy. 5 individuals were compound heterozygous and one was homozygous. These individuals were ascertained through trio WES analysis of 420 unrelated individuals with focal epilepsy enrolled in the China Epilepsy Gene 1.0 project.\r\n\r\nPhenotypic features\r\n- age of onset 1.5-10 years old\r\n- complex partial seizures (4), secondary GTCS (2)\r\n- Normal MRI-B (3), focal cortical dysplasia (1)\r\n- mild ID (1).\r\n\r\nThe variants were noted to be rare in EXAC-East Asian cohort, most located in CUB/Sushi domains. The gene has some evidence of missense and LoF constraint in gnomAD v4. There was also enrichment of biallelic CSMD2 variants in affected individuals versus a control cohort of unaffected parents (5/420 compound hets affected individuals, 3/1942 compound hets in unaffected parents). Previous mouse Csmd2 knockdown models demonstrated reduction in dendritic spine density and complexity. LoF is the postulated disease mechanism.\r\n\r\nClosely related gene paralog CSMD1 has a definitive association with autosomal recessive complex neurodevelopmental disorder with a more severe phenotype. Different expression profiles during developmental stages between CSMD1 and CSMD2 postulated for the comparatively milder phenotype associated with the latter.\r\n\r\nCSMD2 has 71 exons and 3631 amino acids. The true prevalence of biallelic missense variants in healthy individuals across diverse ancestries has not been ascertained. Review of the missense variants in this study highlighted issues in a number of them including poor-moderate conservation, conflicting or benign in silicos including REVEL, non-coding in an alternative transcript, Case 4 p.Val1547Ile homozygote – this variant has been noted in an East Asian male homozygote aged between 45-50 in gnomAD v4.\r\n\r\nGiven prevalence of focal epilepsy, stronger case-control evidence from diverse ancestries and variant-specific functional evidence is required to support this proposed gene-disease association. \nSources: Literature; to: PMID: 40632521 Li et al 2025 (Epilepsia) reported 6 unrelated individuals of Han Chinese descent with biallelic CSMD2 missense variants (NM_052896) and focal epilepsy. 5 individuals were compound heterozygous and one was homozygous. These individuals were ascertained through trio WES analysis of 420 unrelated individuals with focal epilepsy enrolled in the China Epilepsy Gene 1.0 project.\r\n\r\nPhenotypic features\r\n- age of onset 1.5-10 years old\r\n- complex partial seizures (4), secondary GTCS (2)\r\n- Normal MRI-B (3), focal cortical dysplasia (1)\r\n- mild ID (1).\r\n\r\nThe variants were noted to be rare in EXAC-East Asian cohort, most located in CUB/Sushi domains. The gene has some evidence of missense and LoF constraint in gnomAD v4. There was also enrichment of biallelic CSMD2 variants in affected individuals versus a control cohort of unaffected parents (5/420 compound hets affected individuals, 3/1942 compound hets in unaffected parents). Previous mouse Csmd2 knockdown models demonstrated reduction in dendritic spine density and complexity. LoF is the postulated disease mechanism.\r\n\r\nClosely related gene paralog CSMD1 has a definitive association with autosomal recessive complex neurodevelopmental disorder with a more severe phenotype. Different expression profiles during developmental stages between CSMD1 and CSMD2 postulated for the comparatively milder phenotype associated with the latter.\r\n\r\nCSMD2 has 71 exons and 3631 amino acids. The true prevalence of biallelic missense variants in healthy individuals across diverse ancestries has not been ascertained. Review of the missense variants in this study highlighted issues in a number of them including poor-moderate conservation, conflicting or benign in silicos including REVEL, non-coding in an alternative transcript, Case 4 p.Val1547Ile homozygote – this variant has been noted in an East Asian male homozygote aged between 45-50 in gnomAD v4. In addition, no information about unaffected/affected siblings and segregation testing has been provided\r\n\r\nGiven prevalence of focal epilepsy, stronger case-control evidence from diverse ancestries and variant-specific functional evidence is required to support this proposed gene-disease association. \r\nSources: Literature",
"entity_name": "CSMD2",
"entity_type": "gene"
},
{
"created": "2025-09-04T14:56:02.611268+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C4A were set to 22387014; 22737222; 15998580; 10529130; 15294999; 32048120",
"entity_name": "C4A",
"entity_type": "gene"
},
{
"created": "2025-09-04T14:55:43.328446+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C4A: Rating: AMBER; Mode of pathogenicity: None; Publications: 40788338; Phenotypes: C4a deficiency MIM#614380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C4A",
"entity_type": "gene"
},
{
"created": "2025-09-04T14:54:41.495154+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C4A were set to 22387014; 22737222; 15998580; 10529130; 15294999; 32048120",
"entity_name": "C4A",
"entity_type": "gene"
},
{
"created": "2025-09-04T14:54:17.037685+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C4A: Rating: AMBER; Mode of pathogenicity: None; Publications: 40788338; Phenotypes: C4a deficiency MIM#614380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C4A",
"entity_type": "gene"
},
{
"created": "2025-09-04T14:51:47.533547+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDNF were set to 31883645",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2025-09-04T14:51:17.462875+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDNF: Added comment: PMID 40788466: two sisters with compound het variants and CHH. RED for this MOI.; Changed rating: AMBER; Changed publications: 31883645, 40788466",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2025-09-04T14:50:07.443325+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDNF were set to 31883645",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2025-09-04T14:49:40.552123+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 40788466: two sisters with compound het variants and CHH.; to: PMID 40788466: two sisters with compound het variants and CHH. RED for this MOI.",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2025-09-04T14:49:30.951018+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDNF: Changed rating: AMBER",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2025-09-04T14:49:23.215817+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDNF: Added comment: PMID 40788466: two sisters with compound het variants and CHH.; Changed publications: 31883645, 40788466",
"entity_name": "NDNF",
"entity_type": "gene"
}
]
}