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{
"count": 221303,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=237",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=235",
"results": [
{
"created": "2025-05-01T13:29:27.654029+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MYO1A as Amber List (moderate evidence)",
"entity_name": "MYO1A",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:29:27.647467+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: myo1a has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYO1A",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:29:25.618560+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP2A2 as Amber List (moderate evidence)",
"entity_name": "ATP2A2",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:29:25.608459+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp2a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP2A2",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:28:34.363649+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP2A2 was added\ngene: ATP2A2 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Literature\nMode of inheritance for gene: ATP2A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP2A2 were set to 39970126\nPhenotypes for gene: ATP2A2 were set to Congenital myopathy, MONDO:0019952, ATP2A2-related\nReview for gene: ATP2A2 was set to AMBER\nAdded comment: Recurrent missense variant, c.1583G>A, p.R528Q, identified in 14 individuals from 3 unrelated families. Supportive functional data, including a zebrafish model.\r\n\r\nAssociation established for this variant only. \nSources: Literature",
"entity_name": "ATP2A2",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:28:20.083296+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.69",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FGF4 as ready",
"entity_name": "FGF4",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:28:20.075955+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.69",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fgf4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FGF4",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:28:07.750614+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.69",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FGF4 as Amber List (moderate evidence)",
"entity_name": "FGF4",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:28:07.741475+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.69",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fgf4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FGF4",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:27:33.981001+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2535",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FGF4 as ready",
"entity_name": "FGF4",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:27:33.974669+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2535",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fgf4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FGF4",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:27:23.983590+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2535",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FGF4 as Amber List (moderate evidence)",
"entity_name": "FGF4",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:27:23.975871+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2535",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fgf4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FGF4",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:26:50.080077+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2534",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EIF3K as ready",
"entity_name": "EIF3K",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:26:50.073514+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2534",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eif3k has been classified as Amber List (Moderate Evidence).",
"entity_name": "EIF3K",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:25:40.394664+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2534",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EIF3K as Amber List (moderate evidence)",
"entity_name": "EIF3K",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:25:40.382820+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2534",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eif3k has been classified as Amber List (Moderate Evidence).",
"entity_name": "EIF3K",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:25:18.860163+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.124",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EIF3K as ready",
"entity_name": "EIF3K",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:25:18.853143+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.124",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eif3k has been classified as Amber List (Moderate Evidence).",
"entity_name": "EIF3K",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:25:14.656336+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.124",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EIF3K as Amber List (moderate evidence)",
"entity_name": "EIF3K",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:25:14.649274+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.124",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eif3k has been classified as Amber List (Moderate Evidence).",
"entity_name": "EIF3K",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:24:23.914212+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PCNA as ready",
"entity_name": "PCNA",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:24:23.907433+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pcna has been classified as Amber List (Moderate Evidence).",
"entity_name": "PCNA",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:24:20.390017+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PCNA as Amber List (moderate evidence)",
"entity_name": "PCNA",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:24:20.369723+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pcna has been classified as Amber List (Moderate Evidence).",
"entity_name": "PCNA",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:23:55.257608+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2533",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PCNA as ready",
"entity_name": "PCNA",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:23:55.250893+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2533",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pcna has been classified as Amber List (Moderate Evidence).",
"entity_name": "PCNA",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:23:46.248912+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2533",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PCNA as Amber List (moderate evidence)",
"entity_name": "PCNA",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:23:46.239456+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2533",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pcna has been classified as Amber List (Moderate Evidence).",
"entity_name": "PCNA",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:23:22.756519+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PCNA as ready",
"entity_name": "PCNA",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:23:22.749029+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pcna has been classified as Amber List (Moderate Evidence).",
"entity_name": "PCNA",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:23:19.481751+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PCNA as Amber List (moderate evidence)",
"entity_name": "PCNA",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:23:19.475021+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pcna has been classified as Amber List (Moderate Evidence).",
"entity_name": "PCNA",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:22:51.841480+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RAB3A as ready",
"entity_name": "RAB3A",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:22:51.834122+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rab3a has been classified as Green List (High Evidence).",
"entity_name": "RAB3A",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:22:40.872226+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RAB3A as Green List (high evidence)",
"entity_name": "RAB3A",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:22:40.865400+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rab3a has been classified as Green List (High Evidence).",
"entity_name": "RAB3A",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:22:01.406669+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.122",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RAB3A as ready",
"entity_name": "RAB3A",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:22:01.399497+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.122",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rab3a has been classified as Green List (High Evidence).",
"entity_name": "RAB3A",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:21:56.257968+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.122",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RAB3A as Green List (high evidence)",
"entity_name": "RAB3A",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:21:56.250950+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.122",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rab3a has been classified as Green List (High Evidence).",
"entity_name": "RAB3A",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:21:22.213293+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.92",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RAB3A as ready",
"entity_name": "RAB3A",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:21:22.206505+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.92",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rab3a has been classified as Green List (High Evidence).",
"entity_name": "RAB3A",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:21:19.088166+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.92",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RAB3A as Green List (high evidence)",
"entity_name": "RAB3A",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:21:19.081988+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.92",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rab3a has been classified as Green List (High Evidence).",
"entity_name": "RAB3A",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:21:02.940167+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2532",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RAB3A as ready",
"entity_name": "RAB3A",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:21:02.933823+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2532",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rab3a has been classified as Green List (High Evidence).",
"entity_name": "RAB3A",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:20:55.014885+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2532",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RAB3A as Green List (high evidence)",
"entity_name": "RAB3A",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:20:54.999355+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2532",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rab3a has been classified as Green List (High Evidence).",
"entity_name": "RAB3A",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:20:19.879855+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.121",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RAB3A was added\ngene: RAB3A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RAB3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAB3A were set to 40166812\nPhenotypes for gene: RAB3A were set to neurodevelopmental disorder MONDO:0700092\nReview for gene: RAB3A was set to GREEN\nAdded comment: 18 individuals from 10 unrelated cerebellar ataxia families were heterozygous for a RAB3A missense variant. 9/10 families had a recurrent variant - p.Arg83Trp. The age of onset of the ataxia was adult, except for 3 paediatric/adolescent onset cases. Additionally, 4 individuals from 3 families (F11, F12, F13) with 2 de novo missense and a stopgain had similar phenotypes consisting of a neurodevelopmental syndrome with progressive cognitive deficits and spasticity. F14 was a singleton with a missense variant and HMSN & optic atrophy. Initially included in the cohort for gait ataxia, was found to be a sensory ataxia. There were supporting in vitro functional assays and Drosophila rescue models that suggest partial loss of function as the disease mechanism, but were unable to differentiate the genotype-phenotype correlation for the cerebellar ataxia phenotype vs the neurodevelopmental syndrome. \nSources: Literature",
"entity_name": "RAB3A",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:20:19.198884+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RAB3A was added\ngene: RAB3A was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: RAB3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAB3A were set to 40166812\nPhenotypes for gene: RAB3A were set to autosomal dominant cerebellar ataxia MONDO:0020380\nReview for gene: RAB3A was set to GREEN\nAdded comment: 18 individuals from 10 unrelated cerebellar ataxia families were heterozygous for a RAB3A missense variant. 9/10 families had a recurrent variant - p.Arg83Trp. The age of onset of the ataxia was adult, except for 3 paediatric/adolescent onset cases. Additionally, 4 individuals from 3 families (F11, F12, F13) with 2 de novo missense and a stopgain had similar phenotypes consisting of a neurodevelopmental syndrome with progressive cognitive deficits and spasticity. F14 was a singleton with a missense variant and HMSN & optic atrophy. Initially included in the cohort for gait ataxia, was found to be a sensory ataxia. There were supporting in vitro functional assays and Drosophila rescue models that suggest partial loss of function as the disease mechanism, but were unable to differentiate the genotype-phenotype correlation for the cerebellar ataxia phenotype vs the neurodevelopmental syndrome. \nSources: Literature",
"entity_name": "RAB3A",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:19:55.036852+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.91",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RAB3A was added\ngene: RAB3A was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: RAB3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAB3A were set to 40166812\nPhenotypes for gene: RAB3A were set to neurodevelopmental disorder MONDO:0700092\nReview for gene: RAB3A was set to GREEN\nAdded comment: 18 individuals from 10 unrelated cerebellar ataxia families were heterozygous for a RAB3A missense variant. 9/10 families had a recurrent variant - p.Arg83Trp. The age of onset of the ataxia was adult, except for 3 paediatric/adolescent onset cases. Additionally, 4 individuals from 3 families (F11, F12, F13) with 2 de novo missense and a stopgain had similar phenotypes consisting of a neurodevelopmental syndrome with progressive cognitive deficits and spasticity. F14 was a singleton with a missense variant and HMSN & optic atrophy. Initially included in the cohort for gait ataxia, was found to be a sensory ataxia. There were supporting in vitro functional assays and Drosophila rescue models that suggest partial loss of function as the disease mechanism, but were unable to differentiate the genotype-phenotype correlation for the cerebellar ataxia phenotype vs the neurodevelopmental syndrome. \nSources: Literature",
"entity_name": "RAB3A",
"entity_type": "gene"
},
{
"created": "2025-05-01T13:19:44.840558+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2531",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RAB3A was added\ngene: RAB3A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RAB3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAB3A were set to 40166812\nPhenotypes for gene: RAB3A were set to autosomal dominant cerebellar ataxia MONDO:0020380; neurodevelopmental disorder MONDO:0700092\nReview for gene: RAB3A was set to GREEN\nAdded comment: 18 individuals from 10 unrelated cerebellar ataxia families were heterozygous for a RAB3A missense variant. 9/10 families had a recurrent variant - p.Arg83Trp. The age of onset of the ataxia was adult, except for 3 paediatric/adolescent onset cases. Additionally, 4 individuals from 3 families (F11, F12, F13) with 2 de novo missense and a stopgain had similar phenotypes consisting of a neurodevelopmental syndrome with progressive cognitive deficits and spasticity. F14 was a singleton with a missense variant and HMSN & optic atrophy. Initially included in the cohort for gait ataxia, was found to be a sensory ataxia. There were supporting in vitro functional assays and Drosophila rescue models that suggest partial loss of function as the disease mechanism, but were unable to differentiate the genotype-phenotype correlation for the cerebellar ataxia phenotype vs the neurodevelopmental syndrome. \nSources: Literature",
"entity_name": "RAB3A",
"entity_type": "gene"
},
{
"created": "2025-05-01T12:58:25.604148+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.120",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "changed review comment from: LSM1 encodes a subunit of a complex composed of proteins LSM1-7 which is involved in mRNA stabilisation as well as degradation. Other proteins within the complex are yet to have a definitive disease association however LSM7 has been reported a candidate gene. \r\n\r\n3 papers detail 10 affected individuals from 6 families with either a homozygous recurrent splice variant (LSM1:c.231+4A>C) or a homozygous missense variant (LSM1:p.Asn40Tyr in only 1 family). Both very rare in gnomad v4 with 0 homozygotes.\r\n\r\nThe phenotype of the individuals encompassed severe intellectual disability/developmental delay, shared dysmorphic features (broad forehead, pointed chin, medially thickened arched eyebrows, hypertelorism, bulbous nasal tip), skeletal anomalies, cardiovascular (ASD/VSD/aortic valve) and genitourinary abnormalities (CAKUT/hypospadias), gastrointestinal manifestations, hypotonia and visual impairments. \r\n\r\nRT PCR of the splice variant demonstrated exon 3 skipping with a resultant truncated protein with presumed loss of function mechanism. It was noted by authors there are no biallelic loss of function variant in the gnomad v4, as such it was suggested complete loss of function is non viable.; to: LSM1 encodes a subunit of a complex composed of proteins LSM1-7 which is involved in mRNA stabilisation as well as degradation. Other proteins within the complex are yet to have a definitive disease association however LSM7 has been reported a candidate gene. \r\n\r\n3 papers detail 10 affected individuals from 6 families with either a homozygous recurrent splice variant (LSM1:c.231+4A>C) or a homozygous missense variant (LSM1:p.Asn40Tyr in only 1 family). Both very rare in gnomad v4 with 0 homozygotes.\r\n\r\nThe phenotype of the individuals encompassed severe intellectual disability/developmental delay, shared dysmorphic features (broad forehead, pointed chin, medially thickened arched eyebrows, hypertelorism, bulbous nasal tip), skeletal anomalies, cardiovascular (ASD/VSD/aortic valve) and genitourinary abnormalities (CAKUT/hypospadias), gastrointestinal manifestations, hypotonia and visual impairments. \r\n\r\nRT PCR of the splice variant demonstrated exon 3 skipping with a resultant truncated protein with presumed loss of function mechanism. It was noted by authors there are no biallelic loss of function variant in the gnomad v4, as such it was suggested complete loss of function is non viable. Variants outside of exon 3 have not yet been reported in affected individuals.",
"entity_name": "LSM1",
"entity_type": "gene"
},
{
"created": "2025-05-01T12:57:29.782505+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.120",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "edited their review of gene: LSM1: Changed publications: (PMID: 31010896, PMID: 36100156, PMID: 40204357)",
"entity_name": "LSM1",
"entity_type": "gene"
},
{
"created": "2025-05-01T12:56:57.668601+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.120",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "reviewed gene: LSM1: Rating: GREEN; Mode of pathogenicity: None; Publications: (PMID: 31010896, 36100156, 40204357); Phenotypes: Neurodevelopmental disorder, MONDO:0700092, LSM1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LSM1",
"entity_type": "gene"
},
{
"created": "2025-05-01T12:52:56.823374+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYRF were changed from Cardiac-urogenital syndrome, MIM# 618280 to Cardiac-urogenital syndrome, MIM# 618280; Nanophthalmos 1, MIM# 600165",
"entity_name": "MYRF",
"entity_type": "gene"
},
{
"created": "2025-05-01T12:52:47.551236+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYRF were set to 30985895; 30070761; 31069960; 29446546; 30532227",
"entity_name": "MYRF",
"entity_type": "gene"
},
{
"created": "2025-05-01T12:52:35.926507+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYRF: Changed publications: 29446546, 29446546, 30532227, 31069960, 31266062",
"entity_name": "MYRF",
"entity_type": "gene"
},
{
"created": "2025-05-01T12:52:11.241639+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Cardiac-urogenital syndrome is characterized by partial anomalous pulmonary venous return in association with tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism.\r\n\r\nMore than 10 unrelated individuals reported. \nSources: Expert list; to: Cardiac-urogenital syndrome is characterized by partial anomalous pulmonary venous return in association with tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism.\r\n\r\nMore than 10 unrelated individuals reported. \r\n\r\nAlso note association with nanophthalmos, which may also be detectable on US.\r\nSources: Expert list",
"entity_name": "MYRF",
"entity_type": "gene"
},
{
"created": "2025-05-01T12:51:54.111367+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYRF: Changed phenotypes: Cardiac-urogenital syndrome, MIM# 618280, Nanophthalmos 1, MIM# 600165",
"entity_name": "MYRF",
"entity_type": "gene"
},
{
"created": "2025-05-01T12:51:22.949270+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYRF were changed from Nanophthalmos and high hyperopia; Cardiac-urogenital syndrome, MIM# 618280; Encephalitis/encephalopathy, mild, with reversible myelin vacuolization, MIM# 618113 to Nanophthalmos 1, MIM# 600165; Cardiac-urogenital syndrome, MIM# 618280; Encephalitis/encephalopathy, mild, with reversible myelin vacuolization, MIM# 618113",
"entity_name": "MYRF",
"entity_type": "gene"
},
{
"created": "2025-05-01T12:50:54.420455+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYRF were changed from Nanophthalmos; High hyperopia to Nanophthalmos 1, MIM# 600165",
"entity_name": "MYRF",
"entity_type": "gene"
},
{
"created": "2025-05-01T12:50:29.513393+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYRF: Changed phenotypes: Nanophthalmos 1, MIM# 600165",
"entity_name": "MYRF",
"entity_type": "gene"
},
{
"created": "2025-05-01T11:37:10.454377+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.34",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: PCNA was added\ngene: PCNA was added to Ataxia - paediatric. Sources: ClinGen\nMode of inheritance for gene: PCNA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCNA were set to 24911150, 33426167, 36990216\nPhenotypes for gene: PCNA were set to hereditary ataxia MONDO:0100309\nReview for gene: PCNA was set to AMBER\nAdded comment: Classified as Limited by Cerebellar Ataxia GCEP on 09/04/2025 - https://search.clinicalgenome.org/CCID:008778\r\n\r\nTwo missense variants have been reported across 5 families. Both the missense variants are present in gnomAD (rare enough for AR gene). Method of pathogenicity is still unknown.\r\nAffected individuals reported with ataxia, photosensitivity, telangiectasias, and some degree of intellectual disability. \nSources: ClinGen",
"entity_name": "PCNA",
"entity_type": "gene"
},
{
"created": "2025-05-01T11:36:25.622367+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.120",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: PCNA was added\ngene: PCNA was added to Intellectual disability syndromic and non-syndromic. Sources: ClinGen\nMode of inheritance for gene: PCNA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCNA were set to 24911150, 33426167, 36990216\nPhenotypes for gene: PCNA were set to hereditary ataxia MONDO:0100309\nReview for gene: PCNA was set to AMBER\nAdded comment: Classified as Limited by Cerebellar Ataxia GCEP on 09/04/2025 - https://search.clinicalgenome.org/CCID:008778\r\n\r\nTwo missense variants have been reported across 5 families. Both the missense variants are present in gnomAD (rare enough for AR gene). Method of pathogenicity is still unknown.\r\nAffected individuals reported with ataxia, photosensitivity, telangiectasias, and some degree of intellectual disability. \nSources: ClinGen",
"entity_name": "PCNA",
"entity_type": "gene"
},
{
"created": "2025-05-01T11:31:18.853891+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2529",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SIRT6 as ready",
"entity_name": "SIRT6",
"entity_type": "gene"
},
{
"created": "2025-05-01T11:31:18.842898+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2529",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sirt6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SIRT6",
"entity_type": "gene"
},
{
"created": "2025-05-01T11:30:56.891828+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2529",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: SIRT6 were changed from to perinatal disease MONDO:0100086",
"entity_name": "SIRT6",
"entity_type": "gene"
},
{
"created": "2025-05-01T11:20:07.836000+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2528",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SIRT6 as Amber List (moderate evidence)",
"entity_name": "SIRT6",
"entity_type": "gene"
},
{
"created": "2025-05-01T11:20:07.832817+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2528",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Single family and animal model",
"entity_name": "SIRT6",
"entity_type": "gene"
},
{
"created": "2025-05-01T11:20:07.805505+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2528",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sirt6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SIRT6",
"entity_type": "gene"
},
{
"created": "2025-05-01T11:11:51.468534+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2527",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: MYO1A: Added comment: A male infant presenting with congenital diarrhea from the age of 2.\r\nCompound heterozygous variants in MYO1A detected in trans were identified (I678F (FAF 0.5%); D240N (FAF - 0.004%)\r\nSupportive functional assay in patient fibroblasts was conducted along with a knockout mice model recapitulating human phenotype and findings consistent with the findings from the probands biopsy.; Changed rating: AMBER; Changed publications: 40174224; Changed phenotypes: Congenital diarrhea, MONDO:0000824; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYO1A",
"entity_type": "gene"
},
{
"created": "2025-05-01T11:11:46.377209+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.18",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: MYO1A was added\ngene: MYO1A was added to Congenital Diarrhoea. Sources: Literature\nMode of inheritance for gene: MYO1A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYO1A were set to 40174224\nPhenotypes for gene: MYO1A were set to Congenital diarrhea, MONDO:0000824\nReview for gene: MYO1A was set to AMBER\nAdded comment: A male infant presenting with congenital diarrhea from the age of 2.\r\nCompound heterozygous variants in MYO1A detected in trans were identified (I678F (FAF 0.5%); D240N (FAF - 0.004%)\r\nSupportive functional assay in patient fibroblasts was conducted along with a knockout mice model recapitulating human phenotype and findings consistent with the findings from the probands biopsy. \nSources: Literature",
"entity_name": "MYO1A",
"entity_type": "gene"
},
{
"created": "2025-05-01T11:07:41.236901+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2527",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: MYO1A: Rating: RED; Mode of pathogenicity: None; Publications: 24616153; Phenotypes: nonsyndromic genetic hearing loss MONDO:0019497; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYO1A",
"entity_type": "gene"
},
{
"created": "2025-05-01T10:46:46.069490+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.68",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: FGF4 was added\ngene: FGF4 was added to Ciliopathies. Sources: Literature\nMode of inheritance for gene: FGF4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FGF4 were set to 40259859\nPhenotypes for gene: FGF4 were set to Jeune Syndrome, FGF4-related, MONDO:0018770\nReview for gene: FGF4 was set to AMBER\nAdded comment: Two families with three affected individuals reported with homozygous variants in FGF4.\r\n\r\nFamily 1 - Consanguineous parents with five children. Three are unaffected and two are affected with Jeune syndrome - like phenotypes. One of the affected siblings is deceased.\r\nProband was diagnosed with pulmonary hypoplasia at 6 months and later identified to have Jeune Syndrome due to other findings.\r\nHomozygous p.Leu86Phe missense variant was identified (variant absent from gnomAD v4.1)\r\n\r\nFamily 2 - Non-consanguineous parents with affected son with Jeune syndrome like phenotype (pulmonary hypoplasia and thoracic dystrophy)\r\nHomozygous p.Pro204His missense variant was identified (variant absent from gnomAD v4.1) \nSources: Literature",
"entity_name": "FGF4",
"entity_type": "gene"
},
{
"created": "2025-05-01T10:45:45.756337+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2527",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: FGF4 was added\ngene: FGF4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FGF4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FGF4 were set to 40259859\nPhenotypes for gene: FGF4 were set to Jeune Syndrome, FGF4-related, MONDO:0018770\nReview for gene: FGF4 was set to AMBER\nAdded comment: Two families with three affected individuals reported with homozygous variants in FGF4.\r\n\r\nFamily 1 - Consanguineous parents with five children. Three are unaffected and two are affected with Jeune syndrome - like phenotypes. One of the affected siblings is deceased.\r\nProband was diagnosed with pulmonary hypoplasia at 6 months and later identified to have Jeune Syndrome due to other findings. \r\nHomozygous p.Leu86Phe missense variant was identified (variant absent from gnomAD v4.1)\r\n\r\nFamily 2 - Non-consanguineous parents with affected son with Jeune syndrome like phenotype (pulmonary hypoplasia and thoracic dystrophy)\r\nHomozygous p.Pro204His missense variant was identified (variant absent from gnomAD v4.1) \nSources: Literature",
"entity_name": "FGF4",
"entity_type": "gene"
},
{
"created": "2025-05-01T10:34:11.806096+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2527",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: EIF3K: Changed rating: AMBER",
"entity_name": "EIF3K",
"entity_type": "gene"
},
{
"created": "2025-05-01T10:33:55.856842+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.120",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: EIF3K: Changed rating: AMBER",
"entity_name": "EIF3K",
"entity_type": "gene"
},
{
"created": "2025-05-01T10:22:47.521362+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.322",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ODC1 as ready",
"entity_name": "ODC1",
"entity_type": "gene"
},
{
"created": "2025-05-01T10:22:47.515048+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.322",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: odc1 has been classified as Green List (High Evidence).",
"entity_name": "ODC1",
"entity_type": "gene"
},
{
"created": "2025-05-01T10:22:40.873317+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.322",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ODC1 as Green List (high evidence)",
"entity_name": "ODC1",
"entity_type": "gene"
},
{
"created": "2025-05-01T10:22:40.867168+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.322",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: odc1 has been classified as Green List (High Evidence).",
"entity_name": "ODC1",
"entity_type": "gene"
},
{
"created": "2025-05-01T10:21:02.055004+10:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: UNC50 as ready",
"entity_name": "UNC50",
"entity_type": "gene"
},
{
"created": "2025-05-01T10:21:02.048550+10:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: unc50 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UNC50",
"entity_type": "gene"
},
{
"created": "2025-05-01T10:17:39.853941+10:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: UNC50 as Amber List (moderate evidence)",
"entity_name": "UNC50",
"entity_type": "gene"
},
{
"created": "2025-05-01T10:17:39.844228+10:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: unc50 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UNC50",
"entity_type": "gene"
},
{
"created": "2025-05-01T10:17:30.992913+10:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: UNC50 was added\ngene: UNC50 was added to Congenital Myasthenia. Sources: Literature\nMode of inheritance for gene: UNC50 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UNC50 were set to 33820833; 29016857; 40219868\nPhenotypes for gene: UNC50 were set to arthrogryposis multiplex congenita MONDO:0015168; congenital myasthenic syndrome MONDO:0018940\nReview for gene: UNC50 was set to AMBER\nAdded comment: 3 probands reported, 2 with AMC and 1 with CMS.\r\nPMID: 33820833 & PMID: 29016857 report the same French AMC proband with a homozygous frameshift variant (c.750_751del:p.Cys251Phefs*4). In the methods section PMID: 33820833 states that morphological analyses of skeletal muscle, neuromuscular junction or peripheral nerve in patient samples, and functional validation of newly identified genes were reported in separate reports, including PMID: 29016857. Supporting C. elegans model with loss of AChR expression.\r\nPMID: 40219868 - the same homozygous splice variant c.644-13_644-9del was reported in 2 unrelated Indian probands, one with AMC and one with a congenital myasthenic syndrome. Both families had affected siblings with consistent phenotypes, which were not tested for the variant. \nSources: Literature",
"entity_name": "UNC50",
"entity_type": "gene"
},
{
"created": "2025-05-01T10:17:12.308675+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.321",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: UNC50: Rating: AMBER; Mode of pathogenicity: None; Publications: 33820833, 29016857, 40219868; Phenotypes: arthrogryposis multiplex congenita MONDO:0015168, congenital myasthenic syndrome MONDO:0018940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC50",
"entity_type": "gene"
},
{
"created": "2025-05-01T10:15:40.706565+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2527",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: UNC50 were changed from Arthrogryposis multiplex congenita to arthrogryposis multiplex congenita MONDO:0015168; congenital myasthenic syndrome MONDO:0018940",
"entity_name": "UNC50",
"entity_type": "gene"
},
{
"created": "2025-05-01T10:15:19.411433+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2526",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: UNC50 were set to 29016857; 33820833",
"entity_name": "UNC50",
"entity_type": "gene"
},
{
"created": "2025-05-01T10:14:53.896815+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2525",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: UNC50: Rating: AMBER; Mode of pathogenicity: None; Publications: 33820833, 29016857, 40219868; Phenotypes: arthrogryposis multiplex congenita MONDO:0015168, congenital myasthenic syndrome MONDO:0018940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC50",
"entity_type": "gene"
},
{
"created": "2025-05-01T10:14:27.863834+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.419",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: UNC50: Changed phenotypes: arthrogryposis multiplex congenita MONDO:0015168, congenital myasthenic syndrome MONDO:0018940",
"entity_name": "UNC50",
"entity_type": "gene"
},
{
"created": "2025-05-01T10:12:38.574666+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.120",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: EIF3K was added\ngene: EIF3K was added to Intellectual disability syndromic and non-syndromic. Sources: Other\nMode of inheritance for gene: EIF3K was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EIF3K were set to 40219605\nPhenotypes for gene: EIF3K were set to EIF3K-related neurodevelopmental disorder, MONDO:0700092\nReview for gene: EIF3K was set to RED\nAdded comment: More evidence is required determine whether variants in EIF3K result in a neurodevelopmental disorder. Only two variants have been reported.\r\n\r\nFour individuals with global DD, microcephaly, and short stature. Three out of the four individuals had the recurrent homozygous EIF3K (Asp43Gly - gnomAD v4.1 GrpMax FAF - 0.06044%) variant whilst another individual has homozygous intronic EIF3K variant, c.355-13A>G (gnomADv4.1 GrpMax FAF = 0.002551%).\r\nThe 3 individuals of Puerto Rican ancestry with the recurrent missense variant also had homozygous SYNE4 variant (Arg119Trp) identified which the author related to the probands' hearing loss phenotype.\r\nThe Asp43Gly missense variant could potentially be a founder variant however only three families with affected probands have been reported with the variant. \nSources: Other",
"entity_name": "EIF3K",
"entity_type": "gene"
},
{
"created": "2025-05-01T10:12:35.128826+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2525",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: More evidence will be needed to determine whether variants in EIF3K result in a neurodevelopmental disorder.\r\n\r\nFour individuals with global DD, microcephaly, and short stature. Three out of the four individuals had the recurrent homozygous EIF3K (Asp43Gly - gnomAD v4.1 GrpMax FAF - 0.06044%) variant whilst another individual has homozygous intronic EIF3K variant, c.355-13A>G (gnomADv4.1 GrpMax FAF = 0.002551%).\r\nThe 3 individuals of Puerto Rican ancestry with the recurrent missense variant also had homozygous SYNE4 variant (Arg119Trp) identified which the author related to the probands' hearing loss phenotype. \r\nThe Asp43Gly missense variant could potentially be a founder variant however only three families with affected probands have been reported with the variant. \nSources: Literature; to: More evidence will be needed to determine whether variants in EIF3K result in a neurodevelopmental disorder. Only two variants have been reported. \r\n\r\nFour individuals with global DD, microcephaly, and short stature. Three out of the four individuals had the recurrent homozygous EIF3K (Asp43Gly - gnomAD v4.1 GrpMax FAF - 0.06044%) variant whilst another individual has homozygous intronic EIF3K variant, c.355-13A>G (gnomADv4.1 GrpMax FAF = 0.002551%).\r\nThe 3 individuals of Puerto Rican ancestry with the recurrent missense variant also had homozygous SYNE4 variant (Arg119Trp) identified which the author related to the probands' hearing loss phenotype. \r\nThe Asp43Gly missense variant could potentially be a founder variant however only three families with affected probands have been reported with the variant. \r\nSources: Literature",
"entity_name": "EIF3K",
"entity_type": "gene"
},
{
"created": "2025-05-01T10:10:48.928409+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2525",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: EIF3K was added\ngene: EIF3K was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EIF3K was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EIF3K were set to 40219605\nPhenotypes for gene: EIF3K were set to EIF3K-related neurodevelopmental disorder, MONDO:0700092\nReview for gene: EIF3K was set to RED\nAdded comment: More evidence will be needed to determine whether variants in EIF3K result in a neurodevelopmental disorder.\r\n\r\nFour individuals with global DD, microcephaly, and short stature. Three out of the four individuals had the recurrent homozygous EIF3K (Asp43Gly - gnomAD v4.1 GrpMax FAF - 0.06044%) variant whilst another individual has homozygous intronic EIF3K variant, c.355-13A>G (gnomADv4.1 GrpMax FAF = 0.002551%).\r\nThe 3 individuals of Puerto Rican ancestry with the recurrent missense variant also had homozygous SYNE4 variant (Arg119Trp) identified which the author related to the probands' hearing loss phenotype. \r\nThe Asp43Gly missense variant could potentially be a founder variant however only three families with affected probands have been reported with the variant. \nSources: Literature",
"entity_name": "EIF3K",
"entity_type": "gene"
},
{
"created": "2025-05-01T10:07:19.022087+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.419",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: UNC50 were changed from Arthrogryposis multiplex congenita to Arthrogryposis multiplex congenita MONDO:0015168",
"entity_name": "UNC50",
"entity_type": "gene"
},
{
"created": "2025-05-01T10:06:10.177852+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.418",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: UNC50 were set to 29016857; 33820833",
"entity_name": "UNC50",
"entity_type": "gene"
},
{
"created": "2025-05-01T10:05:39.313537+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.417",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: UNC50: Rating: AMBER; Mode of pathogenicity: None; Publications: 33820833, 29016857, 40219868; Phenotypes: arthrogryposis multiplex congenita MONDO:0015168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC50",
"entity_type": "gene"
},
{
"created": "2025-05-01T09:37:11.904869+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2525",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MON1A as ready",
"entity_name": "MON1A",
"entity_type": "gene"
}
]
}