{"count":220751,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=167","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=165","results":[{"created":"2025-09-18T19:56:58.031138+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.207","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh4a1 has been classified as Green List (High Evidence).","entity_name":"ALDH4A1","entity_type":"gene"},{"created":"2025-09-18T19:56:53.726649+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.207","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALDH4A1 as Green List (high evidence)","entity_name":"ALDH4A1","entity_type":"gene"},{"created":"2025-09-18T19:56:53.716343+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.207","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh4a1 has been classified as Green List (High Evidence).","entity_name":"ALDH4A1","entity_type":"gene"},{"created":"2025-09-18T19:05:21.022792+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3109","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLD4 as ready","entity_name":"PLD4","entity_type":"gene"},{"created":"2025-09-18T19:05:21.011688+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3109","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pld4 has been classified as Green List (High Evidence).","entity_name":"PLD4","entity_type":"gene"},{"created":"2025-09-18T14:56:48.967618+10:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.17","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: PLD4 as Green List (high evidence)","entity_name":"PLD4","entity_type":"gene"},{"created":"2025-09-18T14:56:48.955548+10:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.17","user_name":"Krithika Murali","item_type":"entity","text":"Gene: pld4 has been classified as Green List (High Evidence).","entity_name":"PLD4","entity_type":"gene"},{"created":"2025-09-18T14:56:46.069346+10:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.16","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: PLD4 as ready","entity_name":"PLD4","entity_type":"gene"},{"created":"2025-09-18T14:56:46.059775+10:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.16","user_name":"Krithika Murali","item_type":"entity","text":"Gene: pld4 has been classified as Red List (Low Evidence).","entity_name":"PLD4","entity_type":"gene"},{"created":"2025-09-18T14:56:21.356342+10:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.16","user_name":"Krithika Murali","item_type":"entity","text":"gene: PLD4 was added\ngene: PLD4 was added to Autoinflammatory Disorders. Sources: Literature\nMode of inheritance for gene: PLD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLD4 were set to PMID:40931063\nPhenotypes for gene: PLD4 were set to Systemic lupus erythematosus - MONDO:0007915, PLD4-related\nReview for gene: PLD4 was set to GREEN\nAdded comment: PMID:40931063 Wang et al 2025 (Nature) - report 5 unrelated individuals with SLE and biallelic variants in PLD4. Variants were either PTC or missense variants that localised to the catalytic domain. Functional evidence supported LoF mechanism with the variants impairing PLD4 exonuclease activity resulting in aberrant type I IFN signalling activation. pld4-deficient mice had an autoimmune phenotype. \nSources: Literature","entity_name":"PLD4","entity_type":"gene"},{"created":"2025-09-18T14:53:40.357221+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.206","user_name":"Sinead OSullivan","item_type":"entity","text":"gene: ALDH4A1 was added\ngene: ALDH4A1 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALDH4A1 were set to 9700195, 31884946\nPhenotypes for gene: ALDH4A1 were set to Hyperprolinaemia, type II, MIM#239510\nReview for gene: ALDH4A1 was set to GREEN\nAdded comment: At least 5 unrelated families reported, clinical features are predominantly ID and seizures. \nSources: Expert list","entity_name":"ALDH4A1","entity_type":"gene"},{"created":"2025-09-18T14:51:06.028047+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3109","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: PLD4 as Green List (high evidence)","entity_name":"PLD4","entity_type":"gene"},{"created":"2025-09-18T14:51:06.021166+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3109","user_name":"Krithika Murali","item_type":"entity","text":"Gene: pld4 has been classified as Green List (High Evidence).","entity_name":"PLD4","entity_type":"gene"},{"created":"2025-09-18T14:50:36.376909+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3108","user_name":"Krithika Murali","item_type":"entity","text":"gene: PLD4 was added\ngene: PLD4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PLD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLD4 were set to PMID:40931063\nPhenotypes for gene: PLD4 were set to Systemic lupus erythematosus - MONDO:0007915, PLD4-related\nReview for gene: PLD4 was set to GREEN\nAdded comment: PMID:40931063 Wang et al 2025 (Nature) - report 5 unrelated individuals with SLE and biallelic variants in PLD4. Variants were either PTC or missense variants that localised to the catalytic domain. Functional evidence supported LoF mechanism with the variants impairing PLD4 exonuclease activity resulting in aberrant type I IFN signalling activation. pld4-deficient mice had an autoimmune phenotype. \nSources: Literature","entity_name":"PLD4","entity_type":"gene"},{"created":"2025-09-18T12:53:12.579327+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.54","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SKOR2 as ready","entity_name":"SKOR2","entity_type":"gene"},{"created":"2025-09-18T12:53:12.572181+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.54","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: skor2 has been classified as Green List (High Evidence).","entity_name":"SKOR2","entity_type":"gene"},{"created":"2025-09-18T12:42:41.434246+10:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.15","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: KERA as Green List (high evidence)","entity_name":"KERA","entity_type":"gene"},{"created":"2025-09-18T12:42:41.423709+10:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.15","user_name":"Krithika Murali","item_type":"entity","text":"Gene: kera has been classified as Green List (High Evidence).","entity_name":"KERA","entity_type":"gene"},{"created":"2025-09-18T12:42:18.186302+10:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.14","user_name":"Krithika Murali","item_type":"entity","text":"gene: KERA was added\ngene: KERA was added to Eye Anterior Segment Abnormalities. Sources: Literature\nMode of inheritance for gene: KERA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KERA were set to PMID: 32830442; 25967529; 31059048\nPhenotypes for gene: KERA were set to Cornea plana 2, autosomal recessive, MIM# 217300\nReview for gene: KERA was set to GREEN\nAdded comment: Anterior segmental dysgenesis is associated with this condition. \r\nIn addition to cornea plana, corneal opacity and microcornea also reported. \nSources: Literature","entity_name":"KERA","entity_type":"gene"},{"created":"2025-09-18T11:56:16.998529+10:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.31","user_name":"Sarah Milton","item_type":"entity","text":"gene: MCMDC2 was added\ngene: MCMDC2 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: MCMDC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCMDC2 were set to PMID: 40897906; 35172124; 39789727; 36732629\nPhenotypes for gene: MCMDC2 were set to Azoospermia, MONDO:0100459, MCMDC2-related\nReview for gene: MCMDC2 was set to GREEN\nAdded comment: MCMDC2 encodes minichromosome maintenance domain-containing 2. It is involved in meiotic recombination and double stranded break repair for maintenance of fertility.\r\n\r\n6 male individuals have been described thus far with homozygous missense/nonsense/fs variants with non obstructive azoospermia. Loss of function is the proposed mechanism of disease.\r\n\r\nMCMDC2 knockout mice have issues with double stranded break repair in meiosis and subsequent aberrant gametogenesis.\r\n\r\n1 female individual has been described with a homozygous nonsense variant with premature ovarian insufficiency, in the same publication a heterozygous female was also described to have the same phenotype. Functional studies on variants in these two individuals demonstrated homologous repair efficiency to be reduced compared to wild type.\r\n\r\nHomozygous LOF variants are absent in gnomAD v4. \nSources: Literature","entity_name":"MCMDC2","entity_type":"gene"},{"created":"2025-09-18T11:54:56.448271+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3107","user_name":"Sarah Milton","item_type":"entity","text":"gene: MCMDC2 was added\ngene: MCMDC2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MCMDC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCMDC2 were set to PMID: 40897906, 35172124, 39789727, 36732629\nPhenotypes for gene: MCMDC2 were set to Azoospermia, MONDO:0100459, MCMDC2-related\nReview for gene: MCMDC2 was set to GREEN\nAdded comment: MCMDC2 encodes minichromosome maintenance domain-containing 2. It is involved in meiotic recombination and double stranded break repair for maintenance of fertility. \r\n\r\n6 male individuals have been described thus far with homozygous missense/nonsense/fs variants with non obstructive azoospermia. Loss of function is the proposed mechanism of disease. \r\n\r\nMCMDC2 knockout mice have issues with double stranded break repair in meiosis and subsequent aberrant gametogenesis. \r\n\r\n1 female individual has been described with a homozygous nonsense variant with premature ovarian insufficiency, in the same publication a heterozygous female was also described to have the same phenotype. Functional studies on variants in these two individuals demonstrated homologous repair efficiency to be reduced compared to wild type. \r\n\r\nHomozygous LOF variants are absent in gnomAD v4. \nSources: Literature","entity_name":"MCMDC2","entity_type":"gene"},{"created":"2025-09-18T11:54:44.076782+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.296","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SKOR2 as ready","entity_name":"SKOR2","entity_type":"gene"},{"created":"2025-09-18T11:54:44.069956+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.296","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: skor2 has been classified as Green List (High Evidence).","entity_name":"SKOR2","entity_type":"gene"},{"created":"2025-09-18T11:54:38.991945+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.296","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SKOR2 as Green List (high evidence)","entity_name":"SKOR2","entity_type":"gene"},{"created":"2025-09-18T11:54:38.984753+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.296","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: skor2 has been classified as Green List (High Evidence).","entity_name":"SKOR2","entity_type":"gene"},{"created":"2025-09-18T11:54:03.544377+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.295","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SKOR2 was added\ngene: SKOR2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SKOR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SKOR2 were set to 40890458; 29997391; 21937600\nPhenotypes for gene: SKOR2 were set to complex neurodevelopmental disorder with motor features MONDO:0100516\nReview for gene: SKOR2 was set to GREEN\nAdded comment: 3 unrelated families with consistent phenotypes and a supportive mouse model:\r\nPMID: 40890458 - 2 unrelated consanguineous Iranian families with a combination of learning disability, facial dysmorphisms, and motor and speech impairments with homozygous variants (c.374 G>C: p.Arg125Pro & c.1271_1274del: p.K424Rfs*71). The homozygous missense variant segregated with disease in 8 individuals (no unaffected individuals tested were homozygous).\r\n\r\nPMID: 29997391 - proband with neurodevelopmental delay, hypotonia, ataxia, cerebellar dysplasia from a consanguineous Turkish family with a homozygous null variant (NM_001278063.1:c.2750C>G; p.Ser917*). None of the 4 healthy siblings were homozygous for the variant.\r\n\r\nPMID: 21937600 - Skor2 -/- mouse model had defective Purkinje cell development, a severe reduction of granule cell proliferation and a malformed cerebellum. Mouse had unstable gait. \nSources: Literature","entity_name":"SKOR2","entity_type":"gene"},{"created":"2025-09-18T11:51:20.707155+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3107","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SKOR2 as ready","entity_name":"SKOR2","entity_type":"gene"},{"created":"2025-09-18T11:51:20.699681+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3107","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: skor2 has been classified as Green List (High Evidence).","entity_name":"SKOR2","entity_type":"gene"},{"created":"2025-09-18T11:50:57.660054+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.54","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SKOR2 as ready","entity_name":"SKOR2","entity_type":"gene"},{"created":"2025-09-18T11:50:57.649237+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.54","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: skor2 has been classified as Green List (High Evidence).","entity_name":"SKOR2","entity_type":"gene"},{"created":"2025-09-18T11:34:33.001529+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.319","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BNIP1 were changed from spondyloepiphyseal dysplasia MONDO:0016761 to Spondylopeiphyseal dysplasia, Holling type, MIM# 621345","entity_name":"BNIP1","entity_type":"gene"},{"created":"2025-09-18T11:34:09.965754+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.318","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BNIP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondylopeiphyseal dysplasia, Holling type, MIM# 621345; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BNIP1","entity_type":"gene"},{"created":"2025-09-18T11:33:03.483329+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3107","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BNIP1 were changed from spondyloepiphyseal dysplasia MONDO:0016761 to Spondylopeiphyseal dysplasia, Holling type, MIM# 621345","entity_name":"BNIP1","entity_type":"gene"},{"created":"2025-09-18T11:32:29.839971+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3106","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BNIP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondylopeiphyseal dysplasia, Holling type, MIM# 621345; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BNIP1","entity_type":"gene"},{"created":"2025-09-18T11:32:10.160435+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.54","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SKOR2 as Green List (high evidence)","entity_name":"SKOR2","entity_type":"gene"},{"created":"2025-09-18T11:32:10.153135+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.54","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: skor2 has been classified as Green List (High Evidence).","entity_name":"SKOR2","entity_type":"gene"},{"created":"2025-09-18T11:31:56.590628+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3106","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SKOR2 as Green List (high evidence)","entity_name":"SKOR2","entity_type":"gene"},{"created":"2025-09-18T11:31:56.583626+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3106","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: skor2 has been classified as Green List (High Evidence).","entity_name":"SKOR2","entity_type":"gene"},{"created":"2025-09-18T11:31:48.815921+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.53","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SKOR2 was added\ngene: SKOR2 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: SKOR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SKOR2 were set to 40890458; 29997391; 21937600\nPhenotypes for gene: SKOR2 were set to complex neurodevelopmental disorder with motor features MONDO:0100516\nReview for gene: SKOR2 was set to GREEN\nAdded comment: 3 unrelated families with consistent phenotypes and a supportive mouse model:\r\nPMID: 40890458 - 2 unrelated consanguineous Iranian families with a combination of learning disability, facial dysmorphisms, and motor and speech impairments with homozygous variants (c.374 G>C: p.Arg125Pro & c.1271_1274del: p.K424Rfs*71). The homozygous missense variant segregated with disease in 8 individuals (no unaffected individuals tested were homozygous).\r\n\r\nPMID: 29997391 - proband with neurodevelopmental delay, hypotonia, ataxia, cerebellar dysplasia from a consanguineous Turkish family with a homozygous null variant (NM_001278063.1:c.2750C>G; p.Ser917*). None of the 4 healthy siblings were homozygous for the variant.\r\n\r\nPMID: 21937600 - Skor2 -/- mouse model had defective Purkinje cell development, a severe reduction of granule cell proliferation and a malformed cerebellum. Mouse had unstable gait. \nSources: Literature","entity_name":"SKOR2","entity_type":"gene"},{"created":"2025-09-18T11:30:27.194133+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3105","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SKOR2 was added\ngene: SKOR2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SKOR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SKOR2 were set to 40890458; 29997391; 21937600\nPhenotypes for gene: SKOR2 were set to complex neurodevelopmental disorder with motor features MONDO:0100516\nReview for gene: SKOR2 was set to GREEN\nAdded comment: 3 unrelated families with consistent phenotypes and a supportive mouse model:\r\nPMID: 40890458 - 2 unrelated consanguineous Iranian families with a combination of learning disability, facial dysmorphisms, and motor and speech impairments with homozygous variants (c.374 G>C: p.Arg125Pro & c.1271_1274del: p.K424Rfs*71). The homozygous missense variant segregated with disease in 8 individuals (no unaffected individuals tested were homozygous).\r\n\r\nPMID: 29997391 - proband with neurodevelopmental delay, hypotonia, ataxia, cerebellar dysplasia from a consanguineous Turkish family with a homozygous null variant (NM_001278063.1:c.2750C>G; p.Ser917*). None of the 4 healthy siblings were homozygous for the variant.\r\n\r\nPMID: 21937600 - Skor2 -/- mouse model had defective Purkinje cell development, a severe reduction of granule cell proliferation and a malformed cerebellum. Mouse had unstable gait. \nSources: Literature","entity_name":"SKOR2","entity_type":"gene"},{"created":"2025-09-18T10:21:26.279058+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3104","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SLC38A6 as ready","entity_name":"SLC38A6","entity_type":"gene"},{"created":"2025-09-18T10:21:26.271409+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3104","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: slc38a6 has been classified as Red List (Low Evidence).","entity_name":"SLC38A6","entity_type":"gene"},{"created":"2025-09-18T10:20:58.467629+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3104","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: SLC38A6: Changed rating: RED","entity_name":"SLC38A6","entity_type":"gene"},{"created":"2025-09-18T10:20:31.441137+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3104","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SLC38A6 was added\ngene: SLC38A6 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SLC38A6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC38A6 were set to 40931016\nPhenotypes for gene: SLC38A6 were set to essential tremor MONDO:0003233\nReview for gene: SLC38A6 was set to AMBER\nAdded comment: The study identified SLC38A6 variants in 71 unrelated Chinese ET families (≈9.2% of families) and 47 unrelated sporadic cases, with 15 distinct protein‑altering variants. However, many of the 15 variants are >2% in the East Asian population, which is inconsistent with the incidence of essential tremor in the population (~1%). The study does not contain any statistical enrichment analyses or case-control analyses. It also reports incomplete segregation and non-segregation of variants (called a phenocopy by the authors). A null mouse model (Slc38a6-/-) displays tremor and delineated cerebellar cellular abnormalities. In vitro assessment of 3 of the most common missense variants (p.Y108F [gnomAD total 0.0002; East Asian 0.006, p.M281T [gnomAD total 0.0015; East Asian 0.0227] and p.G318S [gnomAD total 0.0021; East Asian 0.0278]) significantly impaired L-arginine (L-Arg) uptake in HeLa cells. Given the prevalence of the reported variants in the East Asian population, the genetic evidence for this gene-disease association is limited. \nSources: Literature","entity_name":"SLC38A6","entity_type":"gene"},{"created":"2025-09-17T16:59:43.903614+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.414","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PATJ as ready","entity_name":"PATJ","entity_type":"gene"},{"created":"2025-09-17T16:59:43.896333+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.414","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: patj has been classified as Red List (Low Evidence).","entity_name":"PATJ","entity_type":"gene"},{"created":"2025-09-17T16:59:37.971988+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.414","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PATJ was added\ngene: PATJ was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PATJ was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PATJ were set to 40931526\nPhenotypes for gene: PATJ were set to Ciliopathy, MONDO:0005308, PATJ-related\nReview for gene: PATJ was set to RED\nAdded comment: PATJ encodes PALS1-associated tight junction protein.\r\n\r\nPMID: 40931526 describes 1 affected fetus with hydrocephalus and polycystic kidney disease with a homozygous NMD predicted variant.\r\n\r\nSome supportive zebrafish functional data.\r\n\r\nHomozygous NMD predicted variants are rare in gnomAD v4. \nSources: Literature","entity_name":"PATJ","entity_type":"gene"},{"created":"2025-09-17T16:58:18.403299+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3103","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PATJ as ready","entity_name":"PATJ","entity_type":"gene"},{"created":"2025-09-17T16:58:18.387414+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3103","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: patj has been classified as Red List (Low Evidence).","entity_name":"PATJ","entity_type":"gene"},{"created":"2025-09-17T16:58:11.177282+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3103","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PATJ as Red List (low evidence)","entity_name":"PATJ","entity_type":"gene"},{"created":"2025-09-17T16:58:11.165526+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3103","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: patj has been classified as Red List (Low Evidence).","entity_name":"PATJ","entity_type":"gene"},{"created":"2025-09-17T16:21:05.071145+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3102","user_name":"Sarah Milton","item_type":"entity","text":"changed review comment from: PATJ encodes PALS1-associated tight junction protein.\r\n\r\nPMID: 40931526 describes 1 affected fetus with hydrocephalus and polycystic kidney disease with a homozygous NMD predicted variant. \r\n\r\nSome supportive zebrafish functional data. \r\n\r\nHomozygous NMD predicted variants rare in gnomAD v4. \nSources: Literature; to: PATJ encodes PALS1-associated tight junction protein.\r\n\r\nPMID: 40931526 describes 1 affected fetus with hydrocephalus and polycystic kidney disease with a homozygous NMD predicted variant. \r\n\r\nSome supportive zebrafish functional data. \r\n\r\nHomozygous NMD predicted variants are rare in gnomAD v4. \r\nSources: Literature","entity_name":"PATJ","entity_type":"gene"},{"created":"2025-09-17T16:20:45.787484+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3102","user_name":"Sarah Milton","item_type":"entity","text":"gene: PATJ was added\ngene: PATJ was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PATJ was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PATJ were set to PMID: 40931526\nPhenotypes for gene: PATJ were set to Ciliopathy, MONDO:0005308, PATJ-related\nReview for gene: PATJ was set to RED\nAdded comment: PATJ encodes PALS1-associated tight junction protein.\r\n\r\nPMID: 40931526 describes 1 affected fetus with hydrocephalus and polycystic kidney disease with a homozygous NMD predicted variant. \r\n\r\nSome supportive zebrafish functional data. \r\n\r\nHomozygous NMD predicted variants rare in gnomAD v4. \nSources: Literature","entity_name":"PATJ","entity_type":"gene"},{"created":"2025-09-17T12:45:21.466445+10:00","panel_name":"Photosensitivity Syndromes","panel_id":156,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GTF2H4 as ready","entity_name":"GTF2H4","entity_type":"gene"},{"created":"2025-09-17T12:45:21.459643+10:00","panel_name":"Photosensitivity Syndromes","panel_id":156,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gtf2h4 has been classified as Red List (Low Evidence).","entity_name":"GTF2H4","entity_type":"gene"},{"created":"2025-09-17T12:45:14.769529+10:00","panel_name":"Photosensitivity Syndromes","panel_id":156,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GTF2H4 was added\ngene: GTF2H4 was added to Photosensitivity Syndromes. Sources: Literature\nMode of inheritance for gene: GTF2H4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTF2H4 were set to 40924495; 40924475\nPhenotypes for gene: GTF2H4 were set to Xeroderma pigmentosa, MONDO:0019600, GTF2H4-related\nReview for gene: GTF2H4 was set to RED\nAdded comment: Singe individual reported in two papers with biallelic LoF variants, one canonical splice site and the other frameshift. Supportive functional data. \nSources: Literature","entity_name":"GTF2H4","entity_type":"gene"},{"created":"2025-09-17T12:32:32.159991+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3102","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DHRS9 as ready","entity_name":"DHRS9","entity_type":"gene"},{"created":"2025-09-17T12:32:32.152703+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhrs9 has been classified as Amber List (Moderate Evidence).","entity_name":"DHRS9","entity_type":"gene"},{"created":"2025-09-17T12:32:23.569522+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3102","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DHRS9 as Amber List (moderate evidence)","entity_name":"DHRS9","entity_type":"gene"},{"created":"2025-09-17T12:32:23.560658+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhrs9 has been classified as Amber List (Moderate Evidence).","entity_name":"DHRS9","entity_type":"gene"},{"created":"2025-09-17T12:32:03.080355+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3101","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DHRS9 was added\ngene: DHRS9 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DHRS9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHRS9 were set to 40945732; 32752300; 38256219\nPhenotypes for gene: DHRS9 were set to Genetic epilepsy, MONDO:0100575, DHRS9\nReview for gene: DHRS9 was set to AMBER\nAdded comment: PMID 40945732: Single individual reported with compound heterozygous missense variants, c.605C>T (p.S202L); c.856G>C (p.D286H) and early onset epilepsy. Functional studies conducted on both variants separately, demonstrating loss of function.\r\n\r\nPMID 32752300: compound het missense variants in an individual with epilepsy.\r\n\r\nPMID 38256219: put forward as a candidate gene in an epilepsy cohort, compound het missense variants identified c.785C>T (p.Ser262Leu) and c.1036G>C (p.Asp346His). \nSources: Literature","entity_name":"DHRS9","entity_type":"gene"},{"created":"2025-09-17T12:31:53.847905+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.206","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: PMID 32752300: compound het missekse variants in an individual with epilepsy.\r\nPMID 38256219: put forward as a candidate gene in an epilepsy cohort, compound het missense variants identified c.785C>T (p.Ser262Leu) and c.1036G>C (p.Asp346His).; to: PMID 32752300: compound het missense variants in an individual with epilepsy.\r\nPMID 38256219: put forward as a candidate gene in an epilepsy cohort, compound het missense variants identified c.785C>T (p.Ser262Leu) and c.1036G>C (p.Asp346His).","entity_name":"DHRS9","entity_type":"gene"},{"created":"2025-09-17T12:31:09.743959+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.206","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Single individual reported with compound heterozygous missense variants, c.605C>T (p.S202L); c.856G>C (p.D286H) and early onset epilepsy. Functional studies conducted on both variants separately, demonstrating loss of function. \nSources: Literature; to: PMID 40945732: Single individual reported with compound heterozygous missense variants, c.605C>T (p.S202L); c.856G>C (p.D286H) and early onset epilepsy. Functional studies conducted on both variants separately, demonstrating loss of function. \r\nSources: Literature","entity_name":"DHRS9","entity_type":"gene"},{"created":"2025-09-17T12:30:29.018253+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.206","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DHRS9 were set to 40945732","entity_name":"DHRS9","entity_type":"gene"},{"created":"2025-09-17T12:29:23.673303+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.205","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DHRS9 as ready","entity_name":"DHRS9","entity_type":"gene"},{"created":"2025-09-17T12:29:23.666401+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.205","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhrs9 has been classified as Amber List (Moderate Evidence).","entity_name":"DHRS9","entity_type":"gene"},{"created":"2025-09-17T12:29:03.561165+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.205","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DHRS9 as Amber List (moderate evidence)","entity_name":"DHRS9","entity_type":"gene"},{"created":"2025-09-17T12:29:03.554128+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.205","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhrs9 has been classified as Amber List (Moderate Evidence).","entity_name":"DHRS9","entity_type":"gene"},{"created":"2025-09-17T12:28:32.578953+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.204","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DHRS9: Added comment: PMID 32752300: compound het missekse variants in an individual with epilepsy.\r\nPMID 38256219: put forward as a candidate gene in an epilepsy cohort, compound het missense variants identified c.785C>T (p.Ser262Leu) and c.1036G>C (p.Asp346His).; Changed rating: AMBER; Changed publications: 40945732, 32752300, 38256219","entity_name":"DHRS9","entity_type":"gene"},{"created":"2025-09-17T12:25:34.338444+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.204","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DHRS9 was added\ngene: DHRS9 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: DHRS9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHRS9 were set to 40945732\nPhenotypes for gene: DHRS9 were set to Genetic epilepsy, MONDO:0100575, DHRS9\nReview for gene: DHRS9 was set to RED\nAdded comment: Single individual reported with compound heterozygous missense variants, c.605C>T (p.S202L); c.856G>C (p.D286H) and early onset epilepsy. Functional studies conducted on both variants separately, demonstrating loss of function. \nSources: Literature","entity_name":"DHRS9","entity_type":"gene"},{"created":"2025-09-17T12:09:04.944385+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3100","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAP3K6 as ready","entity_name":"MAP3K6","entity_type":"gene"},{"created":"2025-09-17T12:09:04.936273+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3100","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: map3k6 has been classified as Red List (Low Evidence).","entity_name":"MAP3K6","entity_type":"gene"},{"created":"2025-09-17T12:08:52.102720+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3100","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAP3K6 was added\ngene: MAP3K6 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MAP3K6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAP3K6 were set to 33728376; 40947452\nPhenotypes for gene: MAP3K6 were set to Neurovascular disorder, MONDO:0043218, MAP3K6-related\nReview for gene: MAP3K6 was set to RED\nAdded comment: PMID 33728376: large multiplex family segregating a missense variant, p.Asp108Asn and stroke episodes, cognitive impairment and tremor. Same family reported in PMID 40947452, with additional feature of basal ganglia calcification. \nSources: Literature","entity_name":"MAP3K6","entity_type":"gene"},{"created":"2025-09-17T12:07:24.094688+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.27","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAP3K6 as ready","entity_name":"MAP3K6","entity_type":"gene"},{"created":"2025-09-17T12:07:24.087432+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: map3k6 has been classified as Red List (Low Evidence).","entity_name":"MAP3K6","entity_type":"gene"},{"created":"2025-09-17T12:07:03.314568+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.27","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAP3K6 was added\ngene: MAP3K6 was added to Stroke. Sources: Literature\nMode of inheritance for gene: MAP3K6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAP3K6 were set to 33728376; 40947452\nPhenotypes for gene: MAP3K6 were set to Neurovascular disorder, MONDO:0043218, MAP3K6-related\nReview for gene: MAP3K6 was set to RED\nAdded comment: PMID 33728376: large multiplex family segregating a missense variant, p.Asp108Asn and stroke episodes, cognitive impairment and tremor. Same family reported in PMID 40947452, with additional feature of basal ganglia calcification. \nSources: Literature","entity_name":"MAP3K6","entity_type":"gene"},{"created":"2025-09-17T11:53:18.250620+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.52","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ELFN1 were changed from Neurodevelopmental disorder, MONDO:0700092, ELFN1-related to Dursun-Ozgul neurodevelopmental syndrome, MIM# 621344","entity_name":"ELFN1","entity_type":"gene"},{"created":"2025-09-17T11:52:59.164795+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.51","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ELFN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dursun-Ozgul neurodevelopmental syndrome, MIM# 621344; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ELFN1","entity_type":"gene"},{"created":"2025-09-17T11:52:34.392085+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.203","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ELFN1 were changed from Neurodevelopmental disorder, MONDO:0700092, ELFN1-related to Dursun-Ozgul neurodevelopmental syndrome, MIM# 621344","entity_name":"ELFN1","entity_type":"gene"},{"created":"2025-09-17T11:52:05.506108+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.202","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ELFN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dursun-Ozgul neurodevelopmental syndrome, MIM# 621344; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ELFN1","entity_type":"gene"},{"created":"2025-09-17T11:51:47.517428+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3099","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ELFN1 as ready","entity_name":"ELFN1","entity_type":"gene"},{"created":"2025-09-17T11:51:47.509932+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3099","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: elfn1 has been classified as Green List (High Evidence).","entity_name":"ELFN1","entity_type":"gene"},{"created":"2025-09-17T11:51:42.071917+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3099","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ELFN1 were changed from Neurodevelopmental disorder, MONDO:0700092, ELFN1-related to Dursun-Ozgul neurodevelopmental syndrome, MIM# 621344","entity_name":"ELFN1","entity_type":"gene"},{"created":"2025-09-17T11:51:19.620489+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3098","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ELFN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dursun-Ozgul neurodevelopmental syndrome, MIM# 621344; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ELFN1","entity_type":"gene"},{"created":"2025-09-17T11:51:02.869940+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ELFN1 were changed from Neurodevelopmental disorder, MONDO:0700092, ELFN1-related to Dursun-Ozgul neurodevelopmental syndrome, MIM# 621344","entity_name":"ELFN1","entity_type":"gene"},{"created":"2025-09-17T11:50:36.168354+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.215","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ELFN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dursun-Ozgul neurodevelopmental syndrome, MIM# 621344; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ELFN1","entity_type":"gene"},{"created":"2025-09-17T06:40:11.449568+10:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALDH7A1 as ready","entity_name":"ALDH7A1","entity_type":"gene"},{"created":"2025-09-17T06:40:11.442224+10:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh7a1 has been classified as Green List (High Evidence).","entity_name":"ALDH7A1","entity_type":"gene"},{"created":"2025-09-17T06:40:09.580583+10:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALDH7A1 were changed from Epilepsy, early-onset, 4, vitamin B6-dependent to Epilepsy, pyridoxine-dependent, MIM#266100","entity_name":"ALDH7A1","entity_type":"gene"},{"created":"2025-09-17T06:39:59.668220+10:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALDH7A1 as Green List (high evidence)","entity_name":"ALDH7A1","entity_type":"gene"},{"created":"2025-09-17T06:39:59.660156+10:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh7a1 has been classified as Green List (High Evidence).","entity_name":"ALDH7A1","entity_type":"gene"},{"created":"2025-09-17T06:39:49.121114+10:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALDH7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, pyridoxine-dependent, MIM#266100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALDH7A1","entity_type":"gene"},{"created":"2025-09-17T06:35:44.666290+10:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GAMT as ready","entity_name":"GAMT","entity_type":"gene"},{"created":"2025-09-17T06:35:44.654781+10:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gamt has been classified as Green List (High Evidence).","entity_name":"GAMT","entity_type":"gene"},{"created":"2025-09-17T06:35:41.851534+10:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GAMT were set to ","entity_name":"GAMT","entity_type":"gene"},{"created":"2025-09-17T06:35:24.265611+10:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GAMT as Green List (high evidence)","entity_name":"GAMT","entity_type":"gene"},{"created":"2025-09-17T06:35:24.258727+10:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gamt has been classified as Green List (High Evidence).","entity_name":"GAMT","entity_type":"gene"},{"created":"2025-09-17T06:35:14.649066+10:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GAMT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral creatine deficiency syndrome 2, MIM#612736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GAMT","entity_type":"gene"},{"created":"2025-09-17T06:30:18.751552+10:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABCC8 as ready","entity_name":"ABCC8","entity_type":"gene"},{"created":"2025-09-17T06:30:18.739501+10:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcc8 has been classified as Amber List (Moderate Evidence).","entity_name":"ABCC8","entity_type":"gene"}]}