{"count":220403,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=52","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=50","results":[{"created":"2026-01-24T18:41:46.069596+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4173","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HSPB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"HSPB1","entity_type":"gene"},{"created":"2026-01-24T18:41:26.736893+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4172","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Multiple families reported, functional data. Different patterns of neuropathy described.; to: Multiple AD families reported, functional data. Different patterns of neuropathy described.","entity_name":"HSPB1","entity_type":"gene"},{"created":"2026-01-24T18:40:07.274261+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4172","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: HSPB1: Added comment: PMID 33943041: two unrelated individuals with homozygous missense variants, p.S135F and p.R136L, and CMT. Both variants already reported as pathogenic in the heterozygous state. Third compound het individual reported in 35328016.; Changed publications: 21785432, 15122254, 18832141, 32639100, 32334137, 33943041, 35328016; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"HSPB1","entity_type":"gene"},{"created":"2026-01-24T18:03:47.719936+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4172","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GPAA1 were changed from Glycosylphosphatidylinositol biosynthesis defect 15, MIM#617810 to Glycosylphosphatidylinositol biosynthesis defect 15, MIM#617810; Vascular malformation, MONDO:0024291, GPAA1-relatedVascular malformation, MONDO:0024291, GPAA1-related","entity_name":"GPAA1","entity_type":"gene"},{"created":"2026-01-24T18:03:27.453799+11:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GPAA1 were changed from Vascular anomalies to Vascular malformation, MONDO:0024291, GPAA1-related","entity_name":"GPAA1","entity_type":"gene"},{"created":"2026-01-24T18:03:17.494910+11:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GPAA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Vascular malformation, MONDO:0024291, GPAA1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GPAA1","entity_type":"gene"},{"created":"2026-01-24T18:03:08.557950+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4171","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GPAA1 were set to 29100095","entity_name":"GPAA1","entity_type":"gene"},{"created":"2026-01-24T18:02:24.507622+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4170","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GPAA1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GPAA1","entity_type":"gene"},{"created":"2026-01-24T18:02:03.812326+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4169","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: PMID 32533362 reports a single family with a GPAA1 missense (c.968A > G; p.Asn323Ser) segregating in 4 affected individuals and not among 6 unaffected individuals. Affected individuals presented with cavernous venous malformation, capillary malformation and infantile haemangioma. Also, supporting in vitro functional assays for the variant impacting function and a gpaa1-deficient zebrafish model displaying several types of developmental defects as well as vascular dysplasia.; to: PMID 32533362 reports a single family with a GPAA1 missense (c.968A > G; p.Asn323Ser) segregating in 4 affected individuals and not among 6 unaffected individuals. Affected individuals presented with cavernous venous malformation, capillary malformation and infantile haemangioma. Also, supporting in vitro functional assays for the variant impacting function and a gpaa1-deficient zebrafish model displaying several types of developmental defects as well as vascular dysplasia.\r\n\r\nAMBER for this MOI.","entity_name":"GPAA1","entity_type":"gene"},{"created":"2026-01-24T18:01:44.661585+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4169","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GPAA1: Changed phenotypes: Glycosylphosphatidylinositol biosynthesis defect 15, MIM#617810, Vascular malformation, MONDO:0024291, GPAA1-related","entity_name":"GPAA1","entity_type":"gene"},{"created":"2026-01-24T18:01:09.080073+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4169","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GPAA1: Added comment: PMID 32533362 reports a single family with a GPAA1 missense (c.968A > G; p.Asn323Ser) segregating in 4 affected individuals and not among 6 unaffected individuals. Affected individuals presented with cavernous venous malformation, capillary malformation and infantile haemangioma. Also, supporting in vitro functional assays for the variant impacting function and a gpaa1-deficient zebrafish model displaying several types of developmental defects as well as vascular dysplasia.; Changed publications: 29100095, 32533362; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GPAA1","entity_type":"gene"},{"created":"2026-01-24T17:54:49.811811+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4169","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FLI1 were set to 10891501; 10981960; 24100448; 28255014; 26316623","entity_name":"FLI1","entity_type":"gene"},{"created":"2026-01-24T17:54:31.088800+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4168","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FLI1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"FLI1","entity_type":"gene"},{"created":"2026-01-24T17:54:14.098008+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4167","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FLI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24100448, 28255014, 26316623, 26494917; Phenotypes: Bleeding disorder, platelet-type, 21, MIM# 617443; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"FLI1","entity_type":"gene"},{"created":"2026-01-24T17:27:47.271842+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.72","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: F12 as ready","entity_name":"F12","entity_type":"gene"},{"created":"2026-01-24T17:27:47.261147+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.72","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: f12 has been classified as Green List (High Evidence).","entity_name":"F12","entity_type":"gene"},{"created":"2026-01-24T17:27:44.810369+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.72","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: F12 were changed from Factor XII deficiency, MIM# 234000; Hereditary angioedema type 3 MONDO:0012526 to Factor XII deficiency, MIM# 234000","entity_name":"F12","entity_type":"gene"},{"created":"2026-01-24T17:27:16.447175+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.71","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: F12 were set to 8528215; 10361128; 26193639; 16638441; 17381464; 21849258; 17186468; 19178938; 30463937; 23994767","entity_name":"F12","entity_type":"gene"},{"created":"2026-01-24T17:26:47.401373+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.70","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: F12 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"F12","entity_type":"gene"},{"created":"2026-01-24T17:25:45.355969+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.69","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene F12 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-24T17:25:45.020467+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.69","user_name":"Zornitza Stark","item_type":"entity","text":"gene: F12 was added\ngene: F12 was added to Bleeding and Platelet Disorders. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: F12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: F12 were set to 8528215; 10361128; 26193639; 16638441; 17381464; 21849258; 17186468; 19178938; 30463937; 23994767\nPhenotypes for gene: F12 were set to Factor XII deficiency, MIM# 234000; Hereditary angioedema type 3 MONDO:0012526\nMode of pathogenicity for gene: F12 was set to Other","entity_name":"F12","entity_type":"gene"},{"created":"2026-01-24T17:24:34.098591+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4167","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: F12 were changed from Hereditary angioedema type 3 MONDO:0012526 to Factor XII deficiency, MIM# 234000; Hereditary angioedema type 3 MONDO:0012526","entity_name":"F12","entity_type":"gene"},{"created":"2026-01-24T17:24:11.811886+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4166","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: F12 were set to 26193639; 16638441; 17381464; 21849258; 17186468; 19178938; 30463937; 23994767","entity_name":"F12","entity_type":"gene"},{"created":"2026-01-24T17:23:48.402861+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4165","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: F12 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"F12","entity_type":"gene"},{"created":"2026-01-24T17:23:27.057324+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4164","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: None; Publications: 8528215, 10361128; Phenotypes: Factor XII deficiency, MIM# 234000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"F12","entity_type":"gene"},{"created":"2026-01-24T17:07:25.641955+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.361","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VPS51 as ready","entity_name":"VPS51","entity_type":"gene"},{"created":"2026-01-24T17:07:25.635087+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.361","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps51 has been classified as Green List (High Evidence).","entity_name":"VPS51","entity_type":"gene"},{"created":"2026-01-24T17:07:06.021876+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.520","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: VPS51 were set to PMID: 30624672; 31207318","entity_name":"VPS51","entity_type":"gene"},{"created":"2026-01-24T17:06:39.233692+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.361","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene VPS51 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-01-24T17:06:38.933365+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.361","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VPS51 was added\ngene: VPS51 was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: VPS51 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS51 were set to 40565173; 30624672; 31207318; 40176246\nPhenotypes for gene: VPS51 were set to Pontocerebellar hypoplasia, type 13, MIM#\t618606","entity_name":"VPS51","entity_type":"gene"},{"created":"2026-01-24T17:06:38.195944+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.519","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: VPS51 as Green List (high evidence)","entity_name":"VPS51","entity_type":"gene"},{"created":"2026-01-24T17:06:38.183037+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.519","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps51 has been classified as Green List (High Evidence).","entity_name":"VPS51","entity_type":"gene"},{"created":"2026-01-24T17:05:17.283491+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.518","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: VPS51: Rating: GREEN; Mode of pathogenicity: None; Publications: 40176246, 40565173; Phenotypes: Pontocerebellar hypoplasia, type 13, MIM# 618606; Mode of inheritance: None","entity_name":"VPS51","entity_type":"gene"},{"created":"2026-01-24T17:04:26.296851+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.628","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: VPS51 were set to 30624672; 31207318","entity_name":"VPS51","entity_type":"gene"},{"created":"2026-01-24T17:02:19.536993+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.627","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: VPS51 as Green List (high evidence)","entity_name":"VPS51","entity_type":"gene"},{"created":"2026-01-24T17:02:19.529981+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.627","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps51 has been classified as Green List (High Evidence).","entity_name":"VPS51","entity_type":"gene"},{"created":"2026-01-24T17:01:47.654264+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.626","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: VPS51: Added comment: PMID 40176246 Reports another individual with autosomal recessive homozygous in-frame duplication in VPS51 (p.Lys126_Met132dup) presenting with severe global developmental delay, microcephaly, hypotonia, hypomyelination, and cerebral and cerebellar atrophy. No functional studies performed; variant absent from gnomAD.\r\n\r\nPMID 40565173 reports 2 affected individuals another family with a homozygous missense variant NM_013265.4:c.1511C>T (p.Thr504Met) in VPS51. The siblings presented with developmental delay, severe intellectual disability, microcephaly, thin corpus callosum, epilepsy, hearing loss and dysphagia. Biparental inheritance demonstrated. Functional assays in patient fibroblasts showed reduced VPS51 mRNA and protein levels, altered autophagy marker expression (LC3B, p62), and increased mitochondria‑lysosome contacts, supporting a loss‑of‑function mechanism.; Changed rating: GREEN; Changed publications: 30624672, 31207318, 40176246, 40565173; Changed phenotypes: Pontocerebellar hypoplasia, type 13, MIM# 618606","entity_name":"VPS51","entity_type":"gene"},{"created":"2026-01-24T17:01:16.118653+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.400","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: VPS51 were set to 30624672; 31207318","entity_name":"VPS51","entity_type":"gene"},{"created":"2026-01-24T17:00:51.195744+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.399","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: VPS51 as Green List (high evidence)","entity_name":"VPS51","entity_type":"gene"},{"created":"2026-01-24T17:00:51.186757+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.399","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps51 has been classified as Green List (High Evidence).","entity_name":"VPS51","entity_type":"gene"},{"created":"2026-01-24T17:00:19.844775+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.398","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: VPS51: Added comment: PMID 40176246 Reports another individual with autosomal recessive homozygous in-frame duplication in VPS51 (p.Lys126_Met132dup) presenting with severe global developmental delay, microcephaly, hypotonia, hypomyelination, and cerebral and cerebellar atrophy. No functional studies performed; variant absent from gnomAD.\r\n\r\nPMID 40565173 reports 2 affected individuals another family with a homozygous missense variant NM_013265.4:c.1511C>T (p.Thr504Met) in VPS51. The siblings presented with developmental delay, severe intellectual disability, microcephaly, thin corpus callosum, epilepsy, hearing loss and dysphagia. Biparental inheritance demonstrated. Functional assays in patient fibroblasts showed reduced VPS51 mRNA and protein levels, altered autophagy marker expression (LC3B, p62), and increased mitochondria‑lysosome contacts, supporting a loss‑of‑function mechanism.; Changed rating: GREEN; Changed publications: 40565173, 30624672, 31207318, 40176246; Changed phenotypes: Pontocerebellar hypoplasia, type 13, MIM# 618606","entity_name":"VPS51","entity_type":"gene"},{"created":"2026-01-24T16:59:44.369932+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.98","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: VPS51 were set to 30624672; 31207318","entity_name":"VPS51","entity_type":"gene"},{"created":"2026-01-24T16:59:17.592084+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.97","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: VPS51 as Green List (high evidence)","entity_name":"VPS51","entity_type":"gene"},{"created":"2026-01-24T16:59:17.578489+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.97","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps51 has been classified as Green List (High Evidence).","entity_name":"VPS51","entity_type":"gene"},{"created":"2026-01-24T16:58:46.261885+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.96","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: VPS51: Added comment: PMID 40176246 Reports another individual with autosomal recessive homozygous in-frame duplication in VPS51 (p.Lys126_Met132dup) presenting with severe global developmental delay, microcephaly, hypotonia, hypomyelination, and cerebral and cerebellar atrophy. No functional studies performed; variant absent from gnomAD.\r\n\r\nPMID 40565173 reports 2 affected individuals another family with a homozygous missense variant NM_013265.4:c.1511C>T (p.Thr504Met) in VPS51. The siblings presented with developmental delay, severe intellectual disability, microcephaly, thin corpus callosum, epilepsy, hearing loss and dysphagia. Biparental inheritance demonstrated. Functional assays in patient fibroblasts showed reduced VPS51 mRNA and protein levels, altered autophagy marker expression (LC3B, p62), and increased mitochondria‑lysosome contacts, supporting a loss‑of‑function mechanism.; Changed rating: GREEN; Changed publications: 40565173, 30624672, 31207318, 40176246; Changed phenotypes: Pontocerebellar hypoplasia, type 13, MIM# 618606","entity_name":"VPS51","entity_type":"gene"},{"created":"2026-01-24T16:58:27.600507+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4164","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: VPS51 were set to 30624672; 31207318","entity_name":"VPS51","entity_type":"gene"},{"created":"2026-01-24T16:58:06.105654+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4163","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: VPS51: Changed publications: 40565173, 30624672, 31207318, 40176246","entity_name":"VPS51","entity_type":"gene"},{"created":"2026-01-24T16:57:31.509247+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4163","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: VPS51: Changed publications: 40565173","entity_name":"VPS51","entity_type":"gene"},{"created":"2026-01-24T16:56:59.413346+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4163","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: VPS51 as Green List (high evidence)","entity_name":"VPS51","entity_type":"gene"},{"created":"2026-01-24T16:56:59.404019+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4163","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps51 has been classified as Green List (High Evidence).","entity_name":"VPS51","entity_type":"gene"},{"created":"2026-01-24T16:56:32.935538+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4162","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: VPS51: Added comment: PMID 40176246 Reports another individual with autosomal recessive homozygous in-frame duplication in VPS51 (p.Lys126_Met132dup) presenting with severe global developmental delay, microcephaly, hypotonia, hypomyelination, and cerebral and cerebellar atrophy. No functional studies performed; variant absent from gnomAD.\r\n\r\nPMID 40565173 reports 2 affected individuals another family with a homozygous missense variant NM_013265.4:c.1511C>T (p.Thr504Met) in VPS51. The siblings presented with developmental delay, severe intellectual disability, microcephaly, thin corpus callosum, epilepsy, hearing loss and dysphagia. Biparental inheritance demonstrated. Functional assays in patient fibroblasts showed reduced VPS51 mRNA and protein levels, altered autophagy marker expression (LC3B, p62), and increased mitochondria‑lysosome contacts, supporting a loss‑of‑function mechanism.; Changed rating: GREEN; Changed publications: 30624672, 31207318, 40176246; Changed phenotypes: Pontocerebellar hypoplasia, type 13, MIM# 618606","entity_name":"VPS51","entity_type":"gene"},{"created":"2026-01-24T16:49:33.001382+11:00","panel_name":"Hereditary Spastic Paraplegia","panel_id":317,"panel_version":"1.139","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SPTSSA were set to 36718090","entity_name":"SPTSSA","entity_type":"gene"},{"created":"2026-01-24T16:49:10.329131+11:00","panel_name":"Hereditary Spastic Paraplegia","panel_id":317,"panel_version":"1.138","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SPTSSA: Added comment: Another individual with heterozygous de novo missense c.152C>T (p.Thr51Ile) reported, same variant, no change in rating, AMBER for both MOI.; Changed publications: 40533086","entity_name":"SPTSSA","entity_type":"gene"},{"created":"2026-01-24T16:48:06.636249+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4162","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SPTSSA were set to 36718090","entity_name":"SPTSSA","entity_type":"gene"},{"created":"2026-01-24T16:47:45.347512+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4161","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Another individual with heterozygous de novo missense c.152C>T (p.Thr51Ile) reported, same variant, no change in rating.; to: Another individual with heterozygous de novo missense c.152C>T (p.Thr51Ile) reported, same variant, no change in rating, AMBER for both MOI.","entity_name":"SPTSSA","entity_type":"gene"},{"created":"2026-01-24T16:47:28.117567+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4161","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SPTSSA: Added comment: Another individual with heterozygous de novo missense c.152C>T (p.Thr51Ile) reported, same variant, no change in rating.; Changed publications: 40533086","entity_name":"SPTSSA","entity_type":"gene"},{"created":"2026-01-24T16:41:25.622797+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.518","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYL1 were set to 30215711","entity_name":"MYL1","entity_type":"gene"},{"created":"2026-01-24T16:41:14.100105+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.517","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYL1 as Green List (high evidence)","entity_name":"MYL1","entity_type":"gene"},{"created":"2026-01-24T16:41:14.089663+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.517","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myl1 has been classified as Green List (High Evidence).","entity_name":"MYL1","entity_type":"gene"},{"created":"2026-01-24T16:41:00.971813+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.516","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MYL1: Added comment: PMID 40488356 reports 4 individuals from 4 unrelated families with biallelic loss‑of‑function MYL1 variants (nonsense, frameshift, splice‑site, missense) presenting with severe congenital myopathy: antenatal/polyhydramnios, early hypotonia, respiratory insufficiency requiring ventilation, feeding difficulties, skeletal fractures, and a distinctive floret‑like pattern of small fast‑twitch fibres on muscle biopsy.; Changed rating: GREEN; Changed publications: 30215711, 40488356","entity_name":"MYL1","entity_type":"gene"},{"created":"2026-01-24T16:40:09.773044+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.120","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYL1 were changed from Congenital Myopathy 14 (MIM#618414) to Myopathy, congenital, with fast-twitch (type II) fiber atrophy MIM#618414","entity_name":"MYL1","entity_type":"gene"},{"created":"2026-01-24T16:39:47.123588+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.119","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYL1 were set to 30215711","entity_name":"MYL1","entity_type":"gene"},{"created":"2026-01-24T16:35:08.456739+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.118","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYL1 as Green List (high evidence)","entity_name":"MYL1","entity_type":"gene"},{"created":"2026-01-24T16:35:08.444789+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.118","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myl1 has been classified as Green List (High Evidence).","entity_name":"MYL1","entity_type":"gene"},{"created":"2026-01-24T16:34:28.892103+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.117","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 40488356; Phenotypes: Myopathy, congenital, with fast-twitch (type II) fiber atrophy MIM#618414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MYL1","entity_type":"gene"},{"created":"2026-01-24T16:33:21.302334+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4161","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYL1 were set to 30215711","entity_name":"MYL1","entity_type":"gene"},{"created":"2026-01-24T16:33:01.222121+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4160","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYL1 as Green List (high evidence)","entity_name":"MYL1","entity_type":"gene"},{"created":"2026-01-24T16:33:01.211500+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4160","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myl1 has been classified as Green List (High Evidence).","entity_name":"MYL1","entity_type":"gene"},{"created":"2026-01-24T16:32:40.965551+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4159","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 40488356; Phenotypes: Myopathy, congenital, with fast-twitch (type II) fiber atrophy MIM#618414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MYL1","entity_type":"gene"},{"created":"2026-01-24T16:28:36.480555+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.140","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IL6R were set to 31235509","entity_name":"IL6R","entity_type":"gene"},{"created":"2026-01-24T16:28:05.011212+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.139","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IL6R as Green List (high evidence)","entity_name":"IL6R","entity_type":"gene"},{"created":"2026-01-24T16:28:04.997539+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.139","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: il6r has been classified as Green List (High Evidence).","entity_name":"IL6R","entity_type":"gene"},{"created":"2026-01-24T16:26:42.398704+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.138","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IL6R: Added comment: PMID 40536180 reports 7 individuals from 7 families with a homozygous missense c.G494C (p.Cys165Ser) variant in IL6R, presenting with childhood‑onset recurrent respiratory infections, pneumonia, elevated IgE, normal CRP, and no early bronchiectasis. All patients received monthly IVIG; two required inhaled corticosteroids.\r\n\r\nPMID 39277818 reports 4 individuals from 2 families with autosomal recessive loss‑of‑function homozygous nonsense variant c.284C>G (p.Ser95Ter) presenting with childhood‑onset cold abscesses, recurrent staphylococcal skin and sinopulmonary infections, high serum IgE, eosinophilia, atopic dermatitis, reduced Th17 cells and impaired STAT3 phosphorylation after IL‑6 stimulation. Functional assays demonstrate defective IL‑6 signalling. All patients are on cotrimoxazole prophylaxis with stable clinical course.; Changed rating: GREEN; Changed publications: 31235509, 39277818, 40536180","entity_name":"IL6R","entity_type":"gene"},{"created":"2026-01-24T16:25:32.010138+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4159","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IL6R were set to 31235509","entity_name":"IL6R","entity_type":"gene"},{"created":"2026-01-24T16:25:12.364097+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4158","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IL6R as Green List (high evidence)","entity_name":"IL6R","entity_type":"gene"},{"created":"2026-01-24T16:25:12.353792+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4158","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: il6r has been classified as Green List (High Evidence).","entity_name":"IL6R","entity_type":"gene"},{"created":"2026-01-24T16:22:47.887150+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4157","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IL6R: Changed rating: GREEN","entity_name":"IL6R","entity_type":"gene"},{"created":"2026-01-24T16:22:37.776070+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4157","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IL6R: Added comment: PMID 40536180 reports 7 individuals from 7 families with a homozygous missense c.G494C (p.Cys165Ser) variant in IL6R, presenting with childhood‑onset recurrent respiratory infections, pneumonia, elevated IgE, normal CRP, and no early bronchiectasis. All patients received monthly IVIG; two required inhaled corticosteroids. \r\n\r\nPMID 39277818 reports 4 individuals from 2 families with autosomal recessive loss‑of‑function homozygous nonsense variant c.284C>G (p.Ser95Ter) presenting with childhood‑onset cold abscesses, recurrent staphylococcal skin and sinopulmonary infections, high serum IgE, eosinophilia, atopic dermatitis, reduced Th17 cells and impaired STAT3 phosphorylation after IL‑6 stimulation. Functional assays demonstrate defective IL‑6 signalling. All patients are on cotrimoxazole prophylaxis with stable clinical course.; Changed publications: 31235509, 39277818, 40536180","entity_name":"IL6R","entity_type":"gene"},{"created":"2026-01-24T16:18:26.287416+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.393","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IL17RD: Changed rating: RED","entity_name":"IL17RD","entity_type":"gene"},{"created":"2026-01-24T16:18:12.315627+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IL17RD: Changed rating: RED","entity_name":"IL17RD","entity_type":"gene"},{"created":"2026-01-24T16:18:00.897991+11:00","panel_name":"Hypogonadotropic hypogonadism","panel_id":4521,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IL17RD: Changed rating: RED","entity_name":"IL17RD","entity_type":"gene"},{"created":"2026-01-24T16:17:40.114327+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.36","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IL17RD: Changed rating: RED","entity_name":"IL17RD","entity_type":"gene"},{"created":"2026-01-24T16:17:25.082434+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4157","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IL17RD: Changed rating: RED","entity_name":"IL17RD","entity_type":"gene"},{"created":"2026-01-24T16:11:10.131453+11:00","panel_name":"Hereditary Spastic Paraplegia","panel_id":317,"panel_version":"1.138","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SEC31A were set to 30464055","entity_name":"SEC31A","entity_type":"gene"},{"created":"2026-01-24T16:10:52.582824+11:00","panel_name":"Hereditary Spastic Paraplegia","panel_id":317,"panel_version":"1.137","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SEC31A as Green List (high evidence)","entity_name":"SEC31A","entity_type":"gene"},{"created":"2026-01-24T16:10:52.570004+11:00","panel_name":"Hereditary Spastic Paraplegia","panel_id":317,"panel_version":"1.137","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sec31a has been classified as Green List (High Evidence).","entity_name":"SEC31A","entity_type":"gene"},{"created":"2026-01-24T16:10:35.069369+11:00","panel_name":"Hereditary Spastic Paraplegia","panel_id":317,"panel_version":"1.136","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SEC31A: Added comment: PMID 39725565: Reports another individual from unrelated family with a homozygous splice‑acceptor loss‑of‑function variant (c.14351G>A) presenting with lethal neurodevelopmental disorder, dysmorphic facial features, brain anomalies, and severe skeletal defects. RT‑PCR on patient and carrier parents blood samples shows exon 12 skipping and markedly reduced SEC31A transcript, supporting loss‑of‑function.\r\n\r\nPMID 40508110 reports 1 individual from an unrelated family with a homozygous missense (p.Cys453Trp) variant.\r\n\r\nFunctional data from PMID 30464055: knockdown SEC31A Drosophila had defective brains and early lethality. In line with SEC31A encoding one of the two coating layers comprising the Coat protein complex II (COP-II) complex, trafficking newly synthesised proteins from the endoplasmic reticulum (ER) to the Golgi, CRISPR/Cas9-mediated SEC31A null mutant cells demonstrated reduced viability through upregulation of ER-stress pathways.; Changed rating: GREEN; Changed publications: 30464055, 40508110, 39725565; Changed phenotypes: Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MIM# 618651, congenital neurodevelopmental syndrome, spastic paraplegia, multiple contractures, profound developmental delay, epilepsy, failure to thrive","entity_name":"SEC31A","entity_type":"gene"},{"created":"2026-01-24T16:08:49.376982+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.626","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SEC31A were set to 30464055; 40508110","entity_name":"SEC31A","entity_type":"gene"},{"created":"2026-01-24T16:08:18.741386+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.625","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SEC31A as Green List (high evidence)","entity_name":"SEC31A","entity_type":"gene"},{"created":"2026-01-24T16:08:18.731537+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.625","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sec31a has been classified as Green List (High Evidence).","entity_name":"SEC31A","entity_type":"gene"},{"created":"2026-01-24T15:57:24.382641+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.624","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SEC31A: Added comment: PMID 39725565: Reports another individual from unrelated family with a homozygous splice‑acceptor loss‑of‑function variant (c.14351G>A) presenting with lethal neurodevelopmental disorder, dysmorphic facial features, brain anomalies, and severe skeletal defects. RT‑PCR on patient and carrier parents blood samples shows exon 12 skipping and markedly reduced SEC31A transcript, supporting loss‑of‑function.\r\n\r\nFunctional data from PMID 30464055: knockdown SEC31A Drosophila had defective brains and early lethality. In line with SEC31A encoding one of the two coating layers comprising the Coat protein complex II (COP-II) complex, trafficking newly synthesised proteins from the endoplasmic reticulum (ER) to the Golgi, CRISPR/Cas9-mediated SEC31A null mutant cells demonstrated reduced viability through upregulation of ER-stress pathways.; Changed rating: GREEN; Changed publications: 30464055, 40508110, 39725565; Changed phenotypes: Halperin-Birk syndrome, MIM#  618651","entity_name":"SEC31A","entity_type":"gene"},{"created":"2026-01-24T15:56:42.999130+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.360","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SEC31A as Green List (high evidence)","entity_name":"SEC31A","entity_type":"gene"},{"created":"2026-01-24T15:56:42.988884+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.360","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sec31a has been classified as Green List (High Evidence).","entity_name":"SEC31A","entity_type":"gene"},{"created":"2026-01-24T15:56:13.051780+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.359","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SEC31A: Added comment: PMID 39725565: Reports another individual from unrelated family with a homozygous splice‑acceptor loss‑of‑function variant (c.14351G>A) presenting with lethal neurodevelopmental disorder, dysmorphic facial features, brain anomalies, and severe skeletal defects. RT‑PCR on patient and carrier parents blood samples shows exon 12 skipping and markedly reduced SEC31A transcript, supporting loss‑of‑function.\r\n\r\nFunctional data from PMID 30464055: knockdown SEC31A Drosophila had defective brains and early lethality. In line with SEC31A encoding one of the two coating layers comprising the Coat protein complex II (COP-II) complex, trafficking newly synthesised proteins from the endoplasmic reticulum (ER) to the Golgi, CRISPR/Cas9-mediated SEC31A null mutant cells demonstrated reduced viability through upregulation of ER-stress pathways.; Changed rating: GREEN; Changed publications: 30464055, 40508110, 39725565; Changed phenotypes: Halperin-Birk syndrome, MIM#  618651","entity_name":"SEC31A","entity_type":"gene"},{"created":"2026-01-24T15:54:18.317206+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.398","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SEC31A were set to 30464055; 40508110","entity_name":"SEC31A","entity_type":"gene"},{"created":"2026-01-24T15:53:54.719555+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.397","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SEC31A as Green List (high evidence)","entity_name":"SEC31A","entity_type":"gene"},{"created":"2026-01-24T15:53:54.702918+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.397","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sec31a has been classified as Green List (High Evidence).","entity_name":"SEC31A","entity_type":"gene"},{"created":"2026-01-24T15:53:28.069988+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.396","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SEC31A: Added comment: PMID 39725565: Reports another individual from unrelated family with a homozygous splice‑acceptor loss‑of‑function variant (c.14351G>A) presenting with lethal neurodevelopmental disorder, dysmorphic facial features, brain anomalies, and severe skeletal defects. RT‑PCR on patient and carrier parents blood samples shows exon 12 skipping and markedly reduced SEC31A transcript, supporting loss‑of‑function.\r\n\r\nFunctional data from PMID 30464055: knockdown SEC31A Drosophila had defective brains and early lethality. In line with SEC31A encoding one of the two coating layers comprising the Coat protein complex II (COP-II) complex, trafficking newly synthesised proteins from the endoplasmic reticulum (ER) to the Golgi, CRISPR/Cas9-mediated SEC31A null mutant cells demonstrated reduced viability through upregulation of ER-stress pathways.; Changed rating: GREEN; Changed publications: 30464055, 40508110, 39725565; Changed phenotypes: Halperin-Birk syndrome, MIM#  618651","entity_name":"SEC31A","entity_type":"gene"},{"created":"2026-01-24T12:05:45.230526+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SEC31A were set to 30464055; 40508110","entity_name":"SEC31A","entity_type":"gene"},{"created":"2026-01-24T12:05:15.295478+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SEC31A as Green List (high evidence)","entity_name":"SEC31A","entity_type":"gene"}]}