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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=296",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=294",
"results": [
{
"created": "2025-02-06T14:19:26.210355+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1459",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: None; Publications: 30868138, 37053367; Phenotypes: Oculocutaneous albinism type 1 (MONDO:0018135), Albinism, oculocutaneous, type IA, MIM#203100, Albinism, oculocutaneous, type IB, MIM#606952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2025-02-06T13:56:32.914263+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1459",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: SYN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14985377, 21441247, 28973667; Phenotypes: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders, MIM#300491, Intellectual developmental disorder, X-linked 50, MIM#300115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2025-02-06T12:21:57.992035+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1459",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: ITGA3 as ready",
"entity_name": "ITGA3",
"entity_type": "gene"
},
{
"created": "2025-02-06T12:21:57.982971+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1459",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: UPGRADE TO GREEN",
"entity_name": "ITGA3",
"entity_type": "gene"
},
{
"created": "2025-02-06T12:21:57.903539+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1459",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: itga3 has been classified as Red List (Low Evidence).",
"entity_name": "ITGA3",
"entity_type": "gene"
},
{
"created": "2025-02-06T12:21:40.644305+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1459",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: ITGA3 were set to 22512483; 25810266; 23114595; 27717396; 32198874; 26854491; 34492382; 34751145",
"entity_name": "ITGA3",
"entity_type": "gene"
},
{
"created": "2025-02-06T12:21:37.091364+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1458",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: ITGA3 were set to 27717396; 22512483; 26854491; 32198874; 25810266",
"entity_name": "ITGA3",
"entity_type": "gene"
},
{
"created": "2025-02-06T12:11:40.039918+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1457",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "changed review comment from: Methylenetetrahydrofolate reductase deficiency is a common inborn error of folate metabolism. The phenotypic spectrum ranges from severe neurologic deterioration and early death to asymptomatic adults.\r\n\r\nHGNC approved symbol/name: MTHFR\r\nIs the phenotype(s) severe and onset <18yo? Yes\r\nKnown technical challenges? No \r\nGene reported in 3 independent families: Yes ; to: Methylenetetrahydrofolate reductase deficiency is a common inborn error of folate metabolism. The phenotypic spectrum ranges from severe neurologic deterioration and early death to asymptomatic adults.\r\n\r\nHGNC approved symbol/name: MTHFR\r\nIs the phenotype(s) severe and onset <18yo? Yes\r\nKnown technical challenges? No \r\nGene reported in 3 independent families: Yes \r\n\r\nNOTE: there are two very common variants in this gene that are not associated with severe disease (665C>T & 1286A>C)",
"entity_name": "MTHFR",
"entity_type": "gene"
},
{
"created": "2025-02-06T12:11:07.754390+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1457",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: VPS11 were set to 27120463; 26307567; 27473128",
"entity_name": "VPS11",
"entity_type": "gene"
},
{
"created": "2025-02-06T12:10:50.997784+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Tag founder tag was added to gene: VPS11.",
"entity_name": "VPS11",
"entity_type": "gene"
},
{
"created": "2025-02-06T12:09:10.454425+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Tag founder tag was added to gene: VPS53.",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2025-02-06T11:41:14.707926+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: TXNL4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25434003, 34713892, 28905882; Phenotypes: Burn-McKeown syndrome, MIM#608572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2025-02-06T11:26:53.216833+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: TULP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15024725, 17962469, 17620573, 27440997; Phenotypes: Leber congenital amaurosis 15, MIM#613843, Retinitis pigmentosa 14, MIM#600132; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TULP1",
"entity_type": "gene"
},
{
"created": "2025-02-06T11:15:17.974823+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: TMCO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24194475, 20018682, 17351359, 30556256, 31102500; Phenotypes: Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1, MIM#213980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2025-02-06T10:43:21.544212+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.108",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: C12orf66 as Green List (high evidence)",
"entity_name": "C12orf66",
"entity_type": "gene"
},
{
"created": "2025-02-06T10:43:21.531051+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.108",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: c12orf66 has been classified as Green List (High Evidence).",
"entity_name": "C12orf66",
"entity_type": "gene"
},
{
"created": "2025-02-06T10:42:48.295203+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.108",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: C12orf66 as Green List (high evidence)",
"entity_name": "C12orf66",
"entity_type": "gene"
},
{
"created": "2025-02-06T10:42:48.285827+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.108",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: c12orf66 has been classified as Green List (High Evidence).",
"entity_name": "C12orf66",
"entity_type": "gene"
},
{
"created": "2025-02-06T10:41:13.879185+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2297",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: C12orf66: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39824192; Phenotypes: Neurodevelopmental disorder MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C12orf66",
"entity_type": "gene"
},
{
"created": "2025-02-06T10:40:09.477688+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.62",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: C12orf66: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39824192; Phenotypes: Neurodevelopmental disorder MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C12orf66",
"entity_type": "gene"
},
{
"created": "2025-02-06T10:38:39.852012+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.107",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: C12orf66 was added\ngene: C12orf66 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: C12orf66 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C12orf66 were set to PMID: 39824192\nPhenotypes for gene: C12orf66 were set to Neurodevelopmental disorder MONDO:0700092\nReview for gene: C12orf66 was set to GREEN\nAdded comment: 11 individuals from 8 families with mild to moderate intellectual disability (11/11), epilepsy (8/11), hearing impairment (3/11), macrocephaly (2/11), facial dysmorphism (6/6).\r\n\r\nWES/WGS identified biallelic variants (missense, nonsense, and large deletion) in KICS2 gene (aka C12ORF66). The KICS2 protein is part of the KICSTOR complex which recruits GATOR1 to lysosomes and inhibits mTORC1 activity. Overactivation of the mTORC1 pathway is a recognized cause of several neurodevelopmental disorders. \r\n\r\nThe variants in the individuals partly affected KICS2 stability, compromised KICSTOR complex formation, and demonstrated a deleterious impact on nutrient-dependent mTORC1 regulation of 4EBP1 and S6K. Phosphoproteome analyses extended these findings to show that KICS2 variants changed the mTORC1 proteome, affecting proteins that function in translation, splicing, and ciliogenesis. Depletion of Kics2 in zebrafish resulted in ciliary dysfunction consistent with a role of mTORC1 in cilia biology. \nSources: Literature",
"entity_name": "C12orf66",
"entity_type": "gene"
},
{
"created": "2025-02-06T10:24:49.080628+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2297",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ARHGEF40 as Red List (low evidence)",
"entity_name": "ARHGEF40",
"entity_type": "gene"
},
{
"created": "2025-02-06T10:24:49.070727+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2297",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: arhgef40 has been classified as Red List (Low Evidence).",
"entity_name": "ARHGEF40",
"entity_type": "gene"
},
{
"created": "2025-02-06T10:24:09.251397+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2296",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ARHGEF40 as Green List (high evidence)",
"entity_name": "ARHGEF40",
"entity_type": "gene"
},
{
"created": "2025-02-06T10:24:09.227528+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2296",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: arhgef40 has been classified as Green List (High Evidence).",
"entity_name": "ARHGEF40",
"entity_type": "gene"
},
{
"created": "2025-02-06T10:23:56.803174+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.62",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ARHGEF40 was added\ngene: ARHGEF40 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ARHGEF40 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARHGEF40 were set to PMID: 39838643\nPhenotypes for gene: ARHGEF40 were set to Neurodevelopmental disorder MONDO:0700092\nReview for gene: ARHGEF40 was set to RED\nAdded comment: 2 individuals with global developmental delay, hypotonia, short stature, hearing impairment, nystagmus, feeding issues, and dysmorphism (bifid uvula, narrow mouth, high palate, micrognathia). Trio clinical whole exome sequencing identified de novo variants in the ARHGEF40 gene at position p.Arg225, which is fully conserved in mammals and located within the n-terminal keratin binding region (p.Arg225Trp and p.Arg225Gln). Of note, multiple additional probands with rare missense variants at the p.Arg225 residue have been identified by the same laboratory (but there was no consent for publication, providing further evidence of \r\nthe importance of this residue.\r\n\r\nThe ARHGEF40 gene (aka SOLO) is a member of the Rho guanine nucleotide exchange factor (Rho-GEF) family of proteins, which stimulate Rho signal transduction molecules by converting them from inactive GDP-bound form to the active GTP-bound state. No functional studies to characterise disease-gene relationship or disease mechanism. \nSources: Literature",
"entity_name": "ARHGEF40",
"entity_type": "gene"
},
{
"created": "2025-02-06T10:23:30.618396+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2295",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ARHGEF40 was added\ngene: ARHGEF40 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ARHGEF40 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARHGEF40 were set to PMID: 39838643\nPhenotypes for gene: ARHGEF40 were set to Neurodevelopmental disorder MONDO:0700092\nReview for gene: ARHGEF40 was set to RED\nAdded comment: 2 individuals with global developmental delay, hypotonia, short stature, hearing impairment, nystagmus, feeding issues, and dysmorphism (bifid uvula, narrow mouth, high palate, micrognathia). Trio clinical whole exome sequencing identified de novo variants in the ARHGEF40 gene at position p.Arg225, which is fully conserved in mammals and located within the n-terminal keratin binding region (p.Arg225Trp and p.Arg225Gln). Of note, multiple additional probands with rare missense variants at the p.Arg225 residue have been identified by the same laboratory (but there was no consent for publication, providing further evidence of \r\nthe importance of this residue.\r\n\r\nThe ARHGEF40 gene (aka SOLO) is a member of the Rho guanine nucleotide exchange factor (Rho-GEF) family of proteins, which stimulate Rho signal transduction molecules by converting them from inactive GDP-bound form to the active GTP-bound state. No functional studies to characterise disease-gene relationship or disease mechanism. \nSources: Literature",
"entity_name": "ARHGEF40",
"entity_type": "gene"
},
{
"created": "2025-02-06T10:18:58.033605+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: TELO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28944240, 27132593; Phenotypes: You-Hoover-Fong syndrome, MIM#616954; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TELO2",
"entity_type": "gene"
},
{
"created": "2025-02-06T10:10:05.302460+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: POU1F1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1472057, 15928241, 7593413; Phenotypes: Pituitary hormone deficiency, combined or isolated, 1, MIM#613038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POU1F1",
"entity_type": "gene"
},
{
"created": "2025-02-06T10:09:29.079835+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2294",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: HECTD1 as Green List (high evidence)",
"entity_name": "HECTD1",
"entity_type": "gene"
},
{
"created": "2025-02-06T10:09:29.068374+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2294",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: hectd1 has been classified as Green List (High Evidence).",
"entity_name": "HECTD1",
"entity_type": "gene"
},
{
"created": "2025-02-06T10:09:07.671628+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2293",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: HECTD1 was added\ngene: HECTD1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HECTD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HECTD1 were set to PMID: 39879987\nPhenotypes for gene: HECTD1 were set to Neurodevelopmental disorder MONDO:0700092\nReview for gene: HECTD1 was set to GREEN\nAdded comment: 14 unrelated individuals (identified through GeneMatcher) with 15 variants of uncertain significance (VUS) in HECTD1 (10 missense, 3 frameshift, 1 nonsense, and 1 splicing variant). Of the 15 different variants in HECTD1, 10 occurred de novo, 3 had unknown inheritance, and 2 were compound heterozygous. All variants were absent in gnomAD, and HECTD1 is highly intolerant to loss-of-function variation (loss-of-function-intolerant score of 1). Clinical presentation was variable developmental delay, intellectual disability, autism spectrum disorder, ADHD, and epilepsy. \r\n\r\nThe one individual with compound heterozygous variants had growth impairment along with NDD. The variants were inherited from apparently healthy parents, suggesting that genetic or environmental modifiers may be required to develop the phenotype. Significant enrichment of de novo variants in HECTD1 was also shown in an independent cohort of 53,305 published trios with NDDs or congenital heart disease. \r\n\r\nHECT-domain-containing protein 1 (HECTD1) mediates developmental pathways, including cell signalling, gene expression, and embryogenesis. Conditional knockout of Hectd1 in the neural lineage in mice resulted in microcephaly, severe hippocampal malformations, and complete agenesis of the corpus callosum, supporting a role for Hectd1 in embryonic brain development. Functional studies of 2 missense variants and 1 nonsense variant in C. elegans revealed dominant effects, including either change-of-function or loss-of-function/haploinsufficient mechanisms. \nSources: Literature",
"entity_name": "HECTD1",
"entity_type": "gene"
},
{
"created": "2025-02-06T10:06:14.348430+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.106",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: HECTD1 as Green List (high evidence)",
"entity_name": "HECTD1",
"entity_type": "gene"
},
{
"created": "2025-02-06T10:06:14.328842+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.106",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: hectd1 has been classified as Green List (High Evidence).",
"entity_name": "HECTD1",
"entity_type": "gene"
},
{
"created": "2025-02-06T10:05:55.232673+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.61",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: HECTD1 as Green List (high evidence)",
"entity_name": "HECTD1",
"entity_type": "gene"
},
{
"created": "2025-02-06T10:05:55.219102+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.61",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: hectd1 has been classified as Green List (High Evidence).",
"entity_name": "HECTD1",
"entity_type": "gene"
},
{
"created": "2025-02-06T10:05:29.426860+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.60",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: HECTD1 as Green List (high evidence)",
"entity_name": "HECTD1",
"entity_type": "gene"
},
{
"created": "2025-02-06T10:05:29.384686+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.60",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: hectd1 has been classified as Green List (High Evidence).",
"entity_name": "HECTD1",
"entity_type": "gene"
},
{
"created": "2025-02-06T10:05:29.283817+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.105",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: HECTD1 as Green List (high evidence)",
"entity_name": "HECTD1",
"entity_type": "gene"
},
{
"created": "2025-02-06T10:05:29.258242+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.105",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: hectd1 has been classified as Green List (High Evidence).",
"entity_name": "HECTD1",
"entity_type": "gene"
},
{
"created": "2025-02-06T10:04:16.774818+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.60",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: HECTD1 as Green List (high evidence)",
"entity_name": "HECTD1",
"entity_type": "gene"
},
{
"created": "2025-02-06T10:04:16.727066+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.105",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: HECTD1 as Green List (high evidence)",
"entity_name": "HECTD1",
"entity_type": "gene"
},
{
"created": "2025-02-06T10:04:16.719749+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.60",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: hectd1 has been classified as Green List (High Evidence).",
"entity_name": "HECTD1",
"entity_type": "gene"
},
{
"created": "2025-02-06T10:04:16.708090+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.105",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: hectd1 has been classified as Green List (High Evidence).",
"entity_name": "HECTD1",
"entity_type": "gene"
},
{
"created": "2025-02-06T10:01:05.255129+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.104",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: HECTD1 was added\ngene: HECTD1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: HECTD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HECTD1 were set to PMID: 39879987\nPhenotypes for gene: HECTD1 were set to Neurodevelopmental disorder MONDO:0700092\nReview for gene: HECTD1 was set to GREEN\nAdded comment: 14 unrelated individuals (identified through GeneMatcher) with 15 variants of uncertain significance (VUS) in HECTD1 (10 missense, 3 frameshift, 1 nonsense, and 1 splicing variant). Of the 15 different variants in HECTD1, 10 occurred de novo, 3 had unknown inheritance, and 2 were compound heterozygous. All variants were absent in gnomAD, and HECTD1 is highly intolerant to loss-of-function variation (loss-of-function-intolerant score of 1). Clinical presentation was variable developmental delay, intellectual disability, autism spectrum disorder, ADHD, and epilepsy. \r\n\r\nThe one individual with compound heterozygous variants had growth impairment along with NDD. The variants were inherited from apparently healthy parents, suggesting that genetic or environmental modifiers may be required to develop the phenotype. \r\n\r\nSignificant enrichment of de novo variants in HECTD1 was also shown in an independent cohort of 53,305 published trios with NDDs or congenital heart disease.\r\n\r\nHECT-domain-containing protein 1 (HECTD1) mediates developmental pathways, including cell signalling, gene expression, and embryogenesis. Conditional knockout of Hectd1 in the neural lineage in mice resulted in microcephaly, severe hippocampal malformations, and complete agenesis of the corpus callosum, supporting a role for Hectd1 in embryonic brain development. Functional studies of 2 missense variants and 1 nonsense variant in C. elegans revealed dominant effects, including either change-of-function or loss-of-function/haploinsufficient mechanisms. \nSources: Literature",
"entity_name": "HECTD1",
"entity_type": "gene"
},
{
"created": "2025-02-06T10:01:05.233910+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.59",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: HECTD1 was added\ngene: HECTD1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: HECTD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HECTD1 were set to PMID: 39879987\nPhenotypes for gene: HECTD1 were set to Neurodevelopmental disorder MONDO:0700092\nReview for gene: HECTD1 was set to GREEN\nAdded comment: 14 unrelated individuals (identified through GeneMatcher) with 15 variants of uncertain significance (VUS) in HECTD1 (10 missense, 3 frameshift, 1 nonsense, and 1 splicing variant). Of the 15 different variants in HECTD1, 10 occurred de novo, 3 had unknown inheritance, and 2 were compound heterozygous. All variants were absent in gnomAD, and HECTD1 is highly intolerant to loss-of-function variation (loss-of-function-intolerant score of 1). Clinical presentation was variable developmental delay, intellectual disability, autism spectrum disorder, ADHD, and epilepsy. \r\n\r\nThe one individual with compound heterozygous variants had growth impairment along with NDD. The variants were inherited from apparently healthy parents, suggesting that genetic or environmental modifiers may be required to develop the phenotype. \r\n\r\nSignificant enrichment of de novo variants in HECTD1 was also shown in an independent cohort of 53,305 published trios with NDDs or congenital heart disease.\r\n\r\nHECT-domain-containing protein 1 (HECTD1) mediates developmental pathways, including cell signalling, gene expression, and embryogenesis. Conditional knockout of Hectd1 in the neural lineage in mice resulted in microcephaly, severe hippocampal malformations, and complete agenesis of the corpus callosum, supporting a role for Hectd1 in embryonic brain development. Functional studies of 2 missense variants and 1 nonsense variant in C. elegans revealed dominant effects, including either change-of-function or loss-of-function/haploinsufficient mechanisms. \nSources: Literature",
"entity_name": "HECTD1",
"entity_type": "gene"
},
{
"created": "2025-02-05T17:51:12.403285+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: POPDC2 as Green List (high evidence)",
"entity_name": "POPDC2",
"entity_type": "gene"
},
{
"created": "2025-02-05T17:51:12.374762+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: popdc2 has been classified as Green List (High Evidence).",
"entity_name": "POPDC2",
"entity_type": "gene"
},
{
"created": "2025-02-05T17:51:04.434199+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POPDC2 was added\ngene: POPDC2 was added to Cardiac conduction disease. Sources: Literature\nMode of inheritance for gene: POPDC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POPDC2 were set to 39006410; 32535041\nPhenotypes for gene: POPDC2 were set to Heart conduction disease MONDO:0000992\nReview for gene: POPDC2 was set to GREEN\nAdded comment: 4 families with sinus node disease and AV node defects with biallelic variants. Loss of function is the expected mechanism of disease. There is also a single report of monozygotic twins with a heterozygous nonsense variant and conduction disease. However, the more recent study reporting the biallelic association found that none of the familial variants were associated with clinical outcomes in the heterozygous state. \nSources: Literature",
"entity_name": "POPDC2",
"entity_type": "gene"
},
{
"created": "2025-02-05T17:12:15.359491+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: SGCB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGCB",
"entity_type": "gene"
},
{
"created": "2025-02-05T17:07:16.179237+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 24319291, 17273843, 24482476; Phenotypes: Spastic ataxia 2, autosomal recessive, MIM#611302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2025-02-05T16:59:01.405720+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "reviewed gene: IL1RAPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18801879, 16470793, 18005360, 21484992, 19012350; Phenotypes: Intellectual developmental disorder, X-linked 21, MIM#300143; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "IL1RAPL1",
"entity_type": "gene"
},
{
"created": "2025-02-05T16:56:21.862866+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: ITGA3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22512483, 25810266, 23114595, 27717396, 32198874, 26854491, 34492382, 34751145; Phenotypes: Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome, MIM #614748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITGA3",
"entity_type": "gene"
},
{
"created": "2025-02-05T16:46:52.511995+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "reviewed gene: PHF8: Rating: GREEN; Mode of pathogenicity: None; Publications: 35469323, 10398231, 18498374, 16199551, 17661819; Phenotypes: Mental retardation syndrome, X-linked, Siderius type, MIM#300263; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PHF8",
"entity_type": "gene"
},
{
"created": "2025-02-05T16:46:06.833714+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: LMNA as ready",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2025-02-05T16:46:06.821610+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lmna has been classified as Green List (High Evidence).",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2025-02-05T16:46:03.453870+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: LMNA as Green List (high evidence)",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2025-02-05T16:46:03.439139+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lmna has been classified as Green List (High Evidence).",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2025-02-05T16:45:47.695869+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LMNA was added\ngene: LMNA was added to Cardiac conduction disease. Sources: NHS GMS\nMode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LMNA were set to 18035086; 27884249; 20301717\nPhenotypes for gene: LMNA were set to atrioventricular block MONDO:0000465\nReview for gene: LMNA was set to GREEN\ngene: LMNA was marked as current diagnostic\nAdded comment: AVB and conduction disease are commonly reported as a feature of LMNA-related cardiomyopathy. \nSources: NHS GMS",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2025-02-05T16:40:39.899367+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "reviewed gene: PIEZO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27653382, 27843126, 27912047, 27974811; Phenotypes: Arthrogryposis, distal, with impaired proprioception and touch, MIM#617146; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2025-02-05T16:40:25.971256+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: LAMP2 as ready",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2025-02-05T16:40:25.958337+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lamp2 has been classified as Green List (High Evidence).",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2025-02-05T16:40:20.986437+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: LAMP2 as Green List (high evidence)",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2025-02-05T16:40:20.953936+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lamp2 has been classified as Green List (High Evidence).",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2025-02-05T16:40:11.963046+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LAMP2 was added\ngene: LAMP2 was added to Cardiac conduction disease. Sources: NHS GMS\nMode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: LAMP2 were set to 25228319; 30857840\nPhenotypes for gene: LAMP2 were set to Danon disease MONDO:0010281\nReview for gene: LAMP2 was set to GREEN\ngene: LAMP2 was marked as current diagnostic\nAdded comment: Cardiac conduction abnormalities are commonly a feature of Danon disease. \nSources: NHS GMS",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2025-02-05T16:30:44.062028+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12496757, 32412173; Phenotypes: Shwachman-Diamond syndrome, 260400 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2025-02-05T16:06:44.749709+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: ISCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25539947, 29297947, 29122497, 29359243, 32424628, 39544370, 29470032; Phenotypes: Multiple mitochondrial dysfunctions syndrome 4, MIM #616370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ISCA2",
"entity_type": "gene"
},
{
"created": "2025-02-05T15:55:13.211065+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HCN4 as ready",
"entity_name": "HCN4",
"entity_type": "gene"
},
{
"created": "2025-02-05T15:55:13.195165+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hcn4 has been classified as Green List (High Evidence).",
"entity_name": "HCN4",
"entity_type": "gene"
},
{
"created": "2025-02-05T15:55:02.606544+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HCN4 as Green List (high evidence)",
"entity_name": "HCN4",
"entity_type": "gene"
},
{
"created": "2025-02-05T15:55:02.590382+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hcn4 has been classified as Green List (High Evidence).",
"entity_name": "HCN4",
"entity_type": "gene"
},
{
"created": "2025-02-05T15:54:55.941748+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HCN4 was added\ngene: HCN4 was added to Cardiac conduction disease. Sources: NHS GMS\nMode of inheritance for gene: HCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HCN4 were set to 21220308; 15123648; 29447731; 12750403; 16407510; 17646576; 25145518\nPhenotypes for gene: HCN4 were set to Sick sinus syndrome MONDO:0001823\nReview for gene: HCN4 was set to GREEN\ngene: HCN4 was marked as current diagnostic\nAdded comment: Associated with sick sinus syndrome, which is a heart conduction disease. \nSources: NHS GMS",
"entity_name": "HCN4",
"entity_type": "gene"
},
{
"created": "2025-02-05T15:46:05.637558+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDGFRB were changed from Basal ganglia calcification, idiopathic, 4, MIM# 615007; Kosaki overgrowth syndrome, MIM# 616592; Myeloproliferative disorder with eosinophilia, MIM# 131440; Myofibromatosis, infantile, 1, MIM# 228550; Premature ageing syndrome, Penttinen type, MIM# 601812 to Basal ganglia calcification, idiopathic, 4, MIM# 615007; Kosaki overgrowth syndrome, MIM# 616592; Myeloproliferative disorder with eosinophilia, MIM# 131440; Myofibromatosis, infantile, 1, MIM# 228550; Premature ageing syndrome, Penttinen type, MIM# 601812; Ocular pterygium-digital keloid dysplasia syndrome, MIM# 621091",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2025-02-05T15:44:13.962798+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PDGFRB: Added comment: Single family reported with OPDKD phenotype characterised by aggressive circumferential ingrowth of conjunctiva beginning in early childhood that is resistant to treatment, ultimately covering the cornea and resulting in loss of vision. Digital keloid formation after minor trauma, which can become extensive and cause flexion contractures; hardened auricles. RED for this association.; Changed publications: 33450762; Changed phenotypes: Ocular pterygium-digital keloid dysplasia syndrome, MIM# 621091, Basal ganglia calcification, idiopathic, 4, MIM# 615007, Kosaki overgrowth syndrome, MIM# 616592, Myeloproliferative disorder with eosinophilia, MIM# 131440, Myofibromatosis, infantile, 1, MIM# 228550, Premature ageing syndrome, Penttinen type, MIM# 601812",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2025-02-05T14:57:45.431989+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: IL17RA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21350122, 27930337, 34390440, 26607704; Phenotypes: Immunodeficiency 51, MIM #613953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL17RA",
"entity_type": "gene"
},
{
"created": "2025-02-05T14:35:03.943679+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2291",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TAF11 as ready",
"entity_name": "TAF11",
"entity_type": "gene"
},
{
"created": "2025-02-05T14:35:03.925216+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2291",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: taf11 has been classified as Red List (Low Evidence).",
"entity_name": "TAF11",
"entity_type": "gene"
},
{
"created": "2025-02-05T14:31:36.480743+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.260",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TAF11 as ready",
"entity_name": "TAF11",
"entity_type": "gene"
},
{
"created": "2025-02-05T14:31:36.463464+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.260",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: taf11 has been classified as Red List (Low Evidence).",
"entity_name": "TAF11",
"entity_type": "gene"
},
{
"created": "2025-02-05T14:31:30.320690+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.260",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TAF11 was added\ngene: TAF11 was added to Clefting disorders. Sources: Literature\nMode of inheritance for gene: TAF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TAF11 were set to 39727181\nPhenotypes for gene: TAF11 were set to cleft lip MONDO:0004747\nReview for gene: TAF11 was set to RED\nAdded comment: 2 individuals in a single Chinese family with nonsyndromic cleft lip segregating with the missense p.Leu48Phe. The missense has an AF of 1.8% (including 15 homozygotes) in gnomAD v4 in the East Asian population, which is too common for an autosomal dominant disease—also, a supporting zebrafish model with craniofacial abnormalities (however the genetic evidence for this GDA is lacking). \nSources: Literature",
"entity_name": "TAF11",
"entity_type": "gene"
},
{
"created": "2025-02-05T14:30:15.219760+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2291",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TAF11 was added\ngene: TAF11 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TAF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TAF11 were set to 39727181\nPhenotypes for gene: TAF11 were set to cleft lip MONDO:0004747\nReview for gene: TAF11 was set to RED\nAdded comment: 2 individuals in a single Chinese family with nonsyndromic cleft lip segregating with the missense p.Leu48Phe. The missense has an AF of 1.8% (including 15 homozygotes) in gnomAD v4 in the East Asian population, which is too common for an autosomal dominant disease—also, a supporting zebrafish model with craniofacial abnormalities (however the genetic evidence for this GDA is lacking). \nSources: Literature",
"entity_name": "TAF11",
"entity_type": "gene"
},
{
"created": "2025-02-05T14:18:02.030954+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GLA as ready",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2025-02-05T14:18:02.004353+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gla has been classified as Green List (High Evidence).",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2025-02-05T14:17:55.082612+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GLA as Green List (high evidence)",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2025-02-05T14:17:55.069772+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gla has been classified as Green List (High Evidence).",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2025-02-05T14:17:46.599874+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GLA was added\ngene: GLA was added to Cardiac conduction disease. Sources: NHS GMS\nMode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: GLA were set to 34067605; 34266644; 31286959; 28668140\nPhenotypes for gene: GLA were set to Fabry disease\tMONDO:0010526\nReview for gene: GLA was set to GREEN\ngene: GLA was marked as current diagnostic\nAdded comment: Cardiac conduction disease can be a cardiac feature of Fabry disease. \nSources: NHS GMS",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2025-02-05T14:07:25.366174+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Conduction disease (including LVNC, heart block, artrial standstill) has been reported with and without neuromuscular features in hemizygous males. \nSources: NHS GMS; to: Conduction abnormalities (including LVNC, heart block, artrial standstill) has been reported with and without neuromuscular features in hemizygous males. \r\nSources: NHS GMS",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2025-02-05T14:04:33.667143+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EMD as Green List (high evidence)",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2025-02-05T14:04:33.636846+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: emd has been classified as Green List (High Evidence).",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2025-02-05T14:04:19.663366+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EMD was added\ngene: EMD was added to Cardiac conduction disease. Sources: NHS GMS\nMode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: EMD were set to 32755394; 31802929; 11385714\nPhenotypes for gene: EMD were set to heart conduction disease MONDO:0000992\nReview for gene: EMD was set to GREEN\ngene: EMD was marked as current diagnostic\nAdded comment: Conduction disease (including LVNC, heart block, artrial standstill) has been reported with and without neuromuscular features in hemizygous males. \nSources: NHS GMS",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2025-02-05T13:55:23.893434+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: SCN5A: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2025-02-05T13:53:54.399221+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN5A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2025-02-05T13:53:25.464105+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SCN5A as Green List (high evidence)",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2025-02-05T13:53:25.447588+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: scn5a has been classified as Green List (High Evidence).",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2025-02-05T13:53:18.794779+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SCN5A was added\ngene: SCN5A was added to Cardiac conduction disease. Sources: NHS GMS\nMode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SCN5A were set to 39134129; 11804990; 16643399; 15466643\nPhenotypes for gene: SCN5A were set to progressive familial heart block MONDO:0019490\nReview for gene: SCN5A was set to GREEN\ngene: SCN5A was marked as current diagnostic\nAdded comment: Pathogenic SCN5A variants have been associated with cardiac conduction disease alone or in pleiotropic/overlapping cardiac syndromes. In a large study of SCN5A PV carriers 3.5% (6/170) had isolated progressive cardiac conduction disease. \nSources: NHS GMS",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2025-02-05T13:52:48.947262+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23230576; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type) MIM#609560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2025-02-05T13:40:18.735884+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DES as ready",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2025-02-05T13:40:18.720894+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: des has been classified as Green List (High Evidence).",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2025-02-05T13:40:14.432198+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DES as Green List (high evidence)",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2025-02-05T13:40:14.418441+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: des has been classified as Green List (High Evidence).",
"entity_name": "DES",
"entity_type": "gene"
}
]
}