{"count":220314,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=29","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=27","results":[{"created":"2026-02-20T22:48:02.918134+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4368","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cryba2 has been classified as Green List (High Evidence).","entity_name":"CRYBA2","entity_type":"gene"},{"created":"2026-02-20T22:47:42.899872+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4367","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CRYBA2 was added\ngene: CRYBA2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CRYBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CRYBA2 were set to 23508780; 37438446; 21212184; 38909969; 34014271; 28450710\nPhenotypes for gene: CRYBA2 were set to cataract MONDO:0005129\nReview for gene: CRYBA2 was set to GREEN\nAdded comment: 5 reported families/cases with missense variants, 3 families segregating variants with incomplete penetrance. Also, a supporting mouse model \nSources: Literature","entity_name":"CRYBA2","entity_type":"gene"},{"created":"2026-02-20T22:11:17.774372+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4366","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene MMP14 from panel Skeletal dysplasia","entity_name":null,"entity_type":null},{"created":"2026-02-20T22:11:16.872843+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4366","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MMP14 was added\ngene: MMP14 was added to Mendeliome. Sources: Expert Review Amber\nMode of inheritance for gene: MMP14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMP14 were set to 29741626; 22922033; 10520996\nPhenotypes for gene: MMP14 were set to Winchester syndrome 277950","entity_name":"MMP14","entity_type":"gene"},{"created":"2026-02-20T22:09:35.931214+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.415","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: MMP14 as ready","entity_name":"MMP14","entity_type":"gene"},{"created":"2026-02-20T22:09:35.923236+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.415","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mmp14 has been classified as Amber List (Moderate Evidence).","entity_name":"MMP14","entity_type":"gene"},{"created":"2026-02-20T22:09:22.034939+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.415","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: MMP14 were set to 22922033","entity_name":"MMP14","entity_type":"gene"},{"created":"2026-02-20T22:05:11.565462+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.414","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MMP14 as Amber List (moderate evidence)","entity_name":"MMP14","entity_type":"gene"},{"created":"2026-02-20T22:05:11.553356+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.414","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mmp14 has been classified as Amber List (Moderate Evidence).","entity_name":"MMP14","entity_type":"gene"},{"created":"2026-02-20T22:03:35.480863+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.413","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: MMP14: Rating: AMBER; Mode of pathogenicity: None; Publications: 29741626, 22922033, 10520996; Phenotypes: multicentric osteolysis-nodulosis-arthropathy spectrum MONDO:0018298; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MMP14","entity_type":"gene"},{"created":"2026-02-20T21:17:52.610918+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4365","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: P4HA2 as Green List (high evidence)","entity_name":"P4HA2","entity_type":"gene"},{"created":"2026-02-20T21:17:52.589113+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4365","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: p4ha2 has been classified as Green List (High Evidence).","entity_name":"P4HA2","entity_type":"gene"},{"created":"2026-02-20T21:17:36.291613+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4364","user_name":"Bryony Thompson","item_type":"entity","text":"gene: P4HA2 was added\ngene: P4HA2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: P4HA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: P4HA2 were set to 25741866\nPhenotypes for gene: P4HA2 were set to myopia MONDO:0001384\nReview for gene: P4HA2 was set to GREEN\nAdded comment: At least 6 families reported with nonsyndromic myopia. \nSources: Literature","entity_name":"P4HA2","entity_type":"gene"},{"created":"2026-02-20T21:06:07.160028+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4363","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ITPR2 as ready","entity_name":"ITPR2","entity_type":"gene"},{"created":"2026-02-20T21:06:07.152118+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4363","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: itpr2 has been classified as Red List (Low Evidence).","entity_name":"ITPR2","entity_type":"gene"},{"created":"2026-02-20T21:05:58.305196+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4363","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ITPR2 was added\ngene: ITPR2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ITPR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ITPR2 were set to 25329695\nPhenotypes for gene: ITPR2 were set to isolated anhidrosis with normal sweat glands MONDO:0007118\nReview for gene: ITPR2 was set to RED\nAdded comment: A single family reported and a supporting mouse model. \nSources: Literature","entity_name":"ITPR2","entity_type":"gene"},{"created":"2026-02-20T20:52:45.492820+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.99","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene SSX1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-20T20:52:45.406828+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.99","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SSX1 was added\ngene: SSX1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature\nMode of inheritance for gene: SSX1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SSX1 were set to 36796361\nPhenotypes for gene: SSX1 were set to spermatogenic failure, X-linked, 5 MONDO:085947","entity_name":"SSX1","entity_type":"gene"},{"created":"2026-02-20T20:52:24.038445+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4362","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SSX1 as ready","entity_name":"SSX1","entity_type":"gene"},{"created":"2026-02-20T20:52:24.028119+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4362","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ssx1 has been classified as Green List (High Evidence).","entity_name":"SSX1","entity_type":"gene"},{"created":"2026-02-20T20:52:15.231590+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4362","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SSX1 as Green List (high evidence)","entity_name":"SSX1","entity_type":"gene"},{"created":"2026-02-20T20:52:15.224825+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4362","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ssx1 has been classified as Green List (High Evidence).","entity_name":"SSX1","entity_type":"gene"},{"created":"2026-02-20T20:51:58.737741+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4361","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SSX1 was added\ngene: SSX1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SSX1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SSX1 were set to 36796361\nPhenotypes for gene: SSX1 were set to spermatogenic failure, X-linked, 5 MONDO:085947\nReview for gene: SSX1 was set to GREEN\nAdded comment: At least 6 unrelated men with hemizygous variants and a supporting mouse model. \nSources: Literature","entity_name":"SSX1","entity_type":"gene"},{"created":"2026-02-20T20:46:46.993581+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.98","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene CT55 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-20T20:46:46.911096+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.98","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CT55 was added\ngene: CT55 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: CT55 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: CT55 were set to 36481789\nPhenotypes for gene: CT55 were set to Spermatogenic failure MONDO:0004983","entity_name":"CT55","entity_type":"gene"},{"created":"2026-02-20T20:46:34.036766+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4360","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CT55 was added\ngene: CT55 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CT55 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: CT55 were set to 36481789\nPhenotypes for gene: CT55 were set to Spermatogenic failure MONDO:0004983\nReview for gene: CT55 was set to RED\nAdded comment: 2 Chinese brothers with infertility, hemizygous for a nonsense variant and supporting mouse model. \nSources: Literature","entity_name":"CT55","entity_type":"gene"},{"created":"2026-02-20T20:43:42.700109+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.326","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene GPRASP2 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-20T20:43:42.480396+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.326","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GPRASP2 was added\ngene: GPRASP2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Red,Literature\nMode of inheritance for gene: GPRASP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: GPRASP2 were set to 28096187; 41688572\nPhenotypes for gene: GPRASP2 were set to X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome MONDO:0044702","entity_name":"GPRASP2","entity_type":"gene"},{"created":"2026-02-20T20:40:31.932136+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4359","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GPRASP2 as ready","entity_name":"GPRASP2","entity_type":"gene"},{"created":"2026-02-20T20:40:31.921769+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4359","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gprasp2 has been classified as Red List (Low Evidence).","entity_name":"GPRASP2","entity_type":"gene"},{"created":"2026-02-20T20:40:17.899768+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4359","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GPRASP2 was added\ngene: GPRASP2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GPRASP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: GPRASP2 were set to 28096187; 41688572\nPhenotypes for gene: GPRASP2 were set to X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome MONDO:0044702\nReview for gene: GPRASP2 was set to RED\nAdded comment: A single family reported segregating a hemizygous delins with deafness and a supporting deficient mouse model. \nSources: Literature","entity_name":"GPRASP2","entity_type":"gene"},{"created":"2026-02-20T20:27:51.201707+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.97","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene ADGRG2 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-20T20:27:51.110952+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.97","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ADGRG2 was added\ngene: ADGRG2 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature\nMode of inheritance for gene: ADGRG2 was set to Other\nPublications for gene: ADGRG2 were set to 15367682; 27476656\nPhenotypes for gene: ADGRG2 were set to congenital bilateral absence of vas deferens MONDO:0018801","entity_name":"ADGRG2","entity_type":"gene"},{"created":"2026-02-20T20:27:13.773554+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4358","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ADGRG2 as ready","entity_name":"ADGRG2","entity_type":"gene"},{"created":"2026-02-20T20:27:13.766533+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4358","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: adgrg2 has been classified as Green List (High Evidence).","entity_name":"ADGRG2","entity_type":"gene"},{"created":"2026-02-20T20:27:05.470515+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4358","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ADGRG2 as Green List (high evidence)","entity_name":"ADGRG2","entity_type":"gene"},{"created":"2026-02-20T20:27:05.460976+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4358","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: adgrg2 has been classified as Green List (High Evidence).","entity_name":"ADGRG2","entity_type":"gene"},{"created":"2026-02-20T20:26:47.763019+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4357","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ADGRG2 was added\ngene: ADGRG2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ADGRG2 was set to Other\nPublications for gene: ADGRG2 were set to 15367682; 27476656\nPhenotypes for gene: ADGRG2 were set to congenital bilateral absence of vas deferens MONDO:0018801\nReview for gene: ADGRG2 was set to GREEN\nAdded comment: At least 4 men reported with hemizygous LoF variants and CBAVD. Supporting mouse model. The gene appears to have no biological relevance in women. \nSources: Literature","entity_name":"ADGRG2","entity_type":"gene"},{"created":"2026-02-20T17:15:16.810076+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.96","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INSL3 as ready","entity_name":"INSL3","entity_type":"gene"},{"created":"2026-02-20T17:15:16.799812+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.96","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: insl3 has been classified as Green List (High Evidence).","entity_name":"INSL3","entity_type":"gene"},{"created":"2026-02-20T17:14:54.999174+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.96","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene INSL3 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-20T17:14:54.907817+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.96","user_name":"Zornitza Stark","item_type":"entity","text":"gene: INSL3 was added\ngene: INSL3 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: INSL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: INSL3 were set to 12601553; 12970298; 11095425; 41369823; 37208861; 33095795\nPhenotypes for gene: INSL3 were set to Cryptorchidism, MIM# 219050; Infertility disorder MONDO:0005047, INSL3-related","entity_name":"INSL3","entity_type":"gene"},{"created":"2026-02-20T17:13:35.761230+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4356","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INSL3 were changed from Cryptorchidism, MIM# 219050 to Cryptorchidism, MIM# 219050; Infertility disorder MONDO:0005047, INSL3-related","entity_name":"INSL3","entity_type":"gene"},{"created":"2026-02-20T17:13:17.343696+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4355","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: INSL3 were set to 12601553; 12970298; 11095425","entity_name":"INSL3","entity_type":"gene"},{"created":"2026-02-20T17:12:44.084879+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4354","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: INSL3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"INSL3","entity_type":"gene"},{"created":"2026-02-20T17:12:08.469687+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4353","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: INSL3 as Green List (high evidence)","entity_name":"INSL3","entity_type":"gene"},{"created":"2026-02-20T17:12:08.459805+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4353","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: insl3 has been classified as Green List (High Evidence).","entity_name":"INSL3","entity_type":"gene"},{"created":"2026-02-20T17:11:40.386915+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4352","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Note some of the reported variants have relatively high population frequencies in gnomad, unclear if this is monogenic.; to: Initial association reported for mono-allelic variants: Note some of the reported variants have relatively high population frequencies in gnomad, unclear if this is monogenic.","entity_name":"INSL3","entity_type":"gene"},{"created":"2026-02-20T17:11:00.560699+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4352","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: INSL3: Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"INSL3","entity_type":"gene"},{"created":"2026-02-20T17:10:44.519444+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4352","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: INSL3: Added comment: PMID 33095795 reports a single individual with a homozygous missense variant c.52G>A p.V18M. Mouse knock‑out studies showed disrupted female cycles and reduced litter size; Changed publications: 12601553, 12970298, 11095425, 41369823, 37208861, 33095795; Changed phenotypes: Cryptorchidism, MIM# 219050, Infertility disorder MONDO:0005047, INSL3-related","entity_name":"INSL3","entity_type":"gene"},{"created":"2026-02-20T17:09:00.731710+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4352","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: INSL3: Added comment: PMID 37208861 reports a single individual with a homozygous frameshift loss‑of‑function variant c.143dupG (p.Arg50Profs*16) presenting with bilateral cryptorchidism diagnosed at birth, early orchidopexy, severe male infertility (non‑obstructive azoospermia, Sertoli‑cell‑only phenotype) and additional features (hypertonia, severe hearing loss, red‑green visual impairment). Functional impact demonstrated by absent INSL3 immunostaining in Leydig cells and undetectable serum INSL3 levels. Additional phenotypic features unlikely explained by INSL3 variant.; Changed publications: 12601553, 12970298, 11095425, 41369823, 37208861","entity_name":"INSL3","entity_type":"gene"},{"created":"2026-02-20T17:07:20.978764+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4352","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: INSL3: Added comment: PMID 41369823 reports two unrelated Chinese Han individuals with  homozygous frameshift INSL3 variants presenting with bilateral cryptorchidism, testicular atrophy, azoospermia and elevated FSH/LH. Functional assays (Western blot, immunofluorescence, Co‑IP) showed truncated proteins and loss of RXFP2 interaction; structural modelling predicted abnormal protein conformation; Changed publications: 12601553, 12970298, 11095425, 41369823","entity_name":"INSL3","entity_type":"gene"},{"created":"2026-02-20T16:59:58.488684+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4352","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IGSF10 were set to 27137492; 31042289; 40700020","entity_name":"IGSF10","entity_type":"gene"},{"created":"2026-02-20T16:59:43.796105+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4351","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IGSF10 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"IGSF10","entity_type":"gene"},{"created":"2026-02-20T16:59:25.596755+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4350","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IGSF10: Added comment: PMID 31200363: two individuals from unrelated families with bi-allelic variants and hypogonadotropic hypogonadism.\r\nPMID 33208564: single individual with mono-allelic LoF variant and hypogonadotropic hypogonadism.\r\n\r\nStill a mixture of MOIs reported, little supportive data, some of the variants postulated to be associated with dominant disease have high pop frequencies.; Changed publications: 27137492, 31042289, 40700020, 31200363, 33208564","entity_name":"IGSF10","entity_type":"gene"},{"created":"2026-02-20T16:31:26.898152+11:00","panel_name":"Dystonia and Chorea","panel_id":290,"panel_version":"0.340","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EPG5 as ready","entity_name":"EPG5","entity_type":"gene"},{"created":"2026-02-20T16:31:26.890958+11:00","panel_name":"Dystonia and Chorea","panel_id":290,"panel_version":"0.340","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: epg5 has been classified as Green List (High Evidence).","entity_name":"EPG5","entity_type":"gene"},{"created":"2026-02-20T16:31:23.151955+11:00","panel_name":"Dystonia and Chorea","panel_id":290,"panel_version":"0.340","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EPG5 as Green List (high evidence)","entity_name":"EPG5","entity_type":"gene"},{"created":"2026-02-20T16:31:23.141872+11:00","panel_name":"Dystonia and Chorea","panel_id":290,"panel_version":"0.340","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: epg5 has been classified as Green List (High Evidence).","entity_name":"EPG5","entity_type":"gene"},{"created":"2026-02-20T16:31:09.248554+11:00","panel_name":"Dystonia and Chorea","panel_id":290,"panel_version":"0.339","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EPG5 was added\ngene: EPG5 was added to Dystonia and Chorea. Sources: Literature\nMode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EPG5 were set to 41053928; 36410285; 40192014\nPhenotypes for gene: EPG5 were set to Neurodevelopmental disorder with parkinsonism or other movement abnormalities, MIM# 621506\nReview for gene: EPG5 was set to GREEN\nAdded comment: Neurodevelopmental disorder with parkinsonism or other movement abnormalities (NEDPAM) is an autosomal recessive disorder characterized by mild to severe developmental delay or intellectual disability and movement abnormalities including spasticity, early onset-parkinsonism with dystonia, myoclonus, or a combination of these. Movement abnormalities may have onset from birth to adulthood in the sixth decade of life. Adolescent-onset dystonia and parkinsonism on the background of neurodevelopmental delay may be rapidly progressive, with cognitive decline. Patients may have additional features such as seizures and optic nerve atrophy. PMIDs 41053928, 36410285 and 40192014 report over 100 affected individuals. \nSources: Literature","entity_name":"EPG5","entity_type":"gene"},{"created":"2026-02-20T16:29:58.723595+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.670","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EPG5 were set to 23222957; 26917586","entity_name":"EPG5","entity_type":"gene"},{"created":"2026-02-20T16:29:18.820411+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.669","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EPG5: Added comment: Neurodevelopmental disorder with parkinsonism or other movement abnormalities (NEDPAM) is an autosomal recessive disorder characterized by mild to severe developmental delay or intellectual disability and movement abnormalities including spasticity, early onset-parkinsonism with dystonia, myoclonus, or a combination of these. Movement abnormalities may have onset from birth to adulthood in the sixth decade of life. Adolescent-onset dystonia and parkinsonism on the background of neurodevelopmental delay may be rapidly progressive, with cognitive decline. Patients may have additional features such as seizures and optic nerve atrophy. PMIDs 41053928, 36410285 and 40192014 report over 100 affected individuals.; Changed publications: 23222957, 26917586, 41053928, 36410285, 40192014; Changed phenotypes: Vici syndrome, MIM# 242840, Neurodevelopmental disorder with parkinsonism or other movement abnormalities, MIM# 621506","entity_name":"EPG5","entity_type":"gene"},{"created":"2026-02-20T16:28:34.897345+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EPG5 as ready","entity_name":"EPG5","entity_type":"gene"},{"created":"2026-02-20T16:28:34.877496+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: epg5 has been classified as Green List (High Evidence).","entity_name":"EPG5","entity_type":"gene"},{"created":"2026-02-20T16:28:31.409933+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EPG5 were changed from Disorders of autophagy; Vici syndrome MONDO:0009452 to Disorders of autophagy; Vici syndrome MONDO:0009452; Neurodevelopmental disorder with parkinsonism or other movement abnormalities, MIM# 621506","entity_name":"EPG5","entity_type":"gene"},{"created":"2026-02-20T16:28:02.480779+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"1.28","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EPG5 were set to 33674710; 34130600; 29884839","entity_name":"EPG5","entity_type":"gene"},{"created":"2026-02-20T16:27:07.675076+11:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"1.27","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 41053928, 36410285, 40192014; Phenotypes: Neurodevelopmental disorder with parkinsonism or other movement abnormalities, MIM# 621506; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EPG5","entity_type":"gene"},{"created":"2026-02-20T16:26:15.394823+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4350","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EPG5 were changed from Vici syndrome, MIM# 242840 to Vici syndrome, MIM# 242840; Neurodevelopmental disorder with parkinsonism or other movement abnormalities, MIM# 621506","entity_name":"EPG5","entity_type":"gene"},{"created":"2026-02-20T16:25:07.576809+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4349","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EPG5 were set to 23222957; 26917586","entity_name":"EPG5","entity_type":"gene"},{"created":"2026-02-20T16:00:33.834382+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4348","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EPG5: Added comment: Neurodevelopmental disorder with parkinsonism or other movement abnormalities (NEDPAM) is an autosomal recessive disorder characterized by mild to severe developmental delay or intellectual disability and movement abnormalities including spasticity, early onset-parkinsonism with dystonia, myoclonus, or a combination of these. Movement abnormalities may have onset from birth to adulthood in the sixth decade of life. Adolescent-onset dystonia and parkinsonism on the background of neurodevelopmental delay may be rapidly progressive, with cognitive decline. Patients may have additional features such as seizures and optic nerve atrophy.\r\n\r\nPMIDs 41053928, 36410285 and 40192014 report over 100 affected individuals.; Changed publications: 23222957, 26917586, 41053928, 36410285, 40192014; Changed phenotypes: Vici syndrome, MIM# 242840, Neurodevelopmental disorder with parkinsonism or other movement abnormalities, MIM# 621506","entity_name":"EPG5","entity_type":"gene"},{"created":"2026-02-20T14:42:07.781493+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.95","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: HNRNPR were changed from Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM#620073; Spermatogenic failure (MONDO:0004983), HNRNPR-related to Spermatogenic failure (MONDO:0004983), HNRNPR-related","entity_name":"HNRNPR","entity_type":"gene"},{"created":"2026-02-20T14:41:57.271568+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.94","user_name":"Lucy Spencer","item_type":"entity","text":"Publications for gene: HNRNPR were set to 26795593; 31079900; 41618099","entity_name":"HNRNPR","entity_type":"gene"},{"created":"2026-02-20T14:41:49.921530+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.93","user_name":"Lucy Spencer","item_type":"entity","text":"Mode of inheritance for gene: HNRNPR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HNRNPR","entity_type":"gene"},{"created":"2026-02-20T14:41:43.104857+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.92","user_name":"Lucy Spencer","item_type":"entity","text":"Classified gene: HNRNPR as Amber List (moderate evidence)","entity_name":"HNRNPR","entity_type":"gene"},{"created":"2026-02-20T14:41:43.098063+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.92","user_name":"Lucy Spencer","item_type":"entity","text":"Gene: hnrnpr has been classified as Amber List (Moderate Evidence).","entity_name":"HNRNPR","entity_type":"gene"},{"created":"2026-02-20T14:35:28.386269+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.91","user_name":"Lucy Spencer","item_type":"panel","text":"Copied gene HNRNPR from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-20T14:35:28.271003+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.91","user_name":"Lucy Spencer","item_type":"entity","text":"gene: HNRNPR was added\ngene: HNRNPR was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: HNRNPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: HNRNPR were set to 26795593; 31079900; 41618099\nPhenotypes for gene: HNRNPR were set to Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM#620073; Spermatogenic failure (MONDO:0004983), HNRNPR-related","entity_name":"HNRNPR","entity_type":"gene"},{"created":"2026-02-20T14:35:02.016656+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4348","user_name":"Lucy Spencer","item_type":"entity","text":"Mode of inheritance for gene: HNRNPR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"HNRNPR","entity_type":"gene"},{"created":"2026-02-20T14:34:42.992552+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4347","user_name":"Lucy Spencer","item_type":"entity","text":"Publications for gene: HNRNPR were set to 26795593; 31079900","entity_name":"HNRNPR","entity_type":"gene"},{"created":"2026-02-20T14:34:28.803517+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4346","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: HNRNPR were changed from Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM#\t620073 to Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM#620073; Spermatogenic failure (MONDO:0004983), HNRNPR-related","entity_name":"HNRNPR","entity_type":"gene"},{"created":"2026-02-20T14:33:57.763725+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4345","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: HNRNPR: Rating: AMBER; Mode of pathogenicity: None; Publications: 41618099; Phenotypes: Spermatogenic failure (MONDO:0004983), HNRNPR-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HNRNPR","entity_type":"gene"},{"created":"2026-02-20T13:59:57.693889+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.83","user_name":"Sarah Milton","item_type":"panel","text":"Added reviews for gene SSR3 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-20T13:57:58.199324+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4345","user_name":"Sarah Milton","item_type":"entity","text":"reviewed gene: SSR3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32332102; Phenotypes: Congenital disorder of glycosylation, MONDO:0015286, SSR3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SSR3","entity_type":"gene"},{"created":"2026-02-20T07:05:00.222134+11:00","panel_name":"Progressive Neurological Conditions","panel_id":3377,"panel_version":"21.437","user_name":"Bryony Thompson","item_type":"panel","text":"Changed child panels to: Early-onset Parkinson disease; Brain Calcification; Genetic Epilepsy; Ataxia; Hereditary Neuropathy; Hereditary Spastic Paraplegia; Congenital Disorders of Glycosylation; Limb-Girdle Muscular Dystrophy and Distal Myopathy; Miscellaneous Metabolic Disorders; Early-onset Dementia; Motor Neurone Disease; Rhabdomyolysis and Metabolic Myopathy; Lysosomal Storage Disorder; Mitochondrial disease; Fatty Acid Oxidation Defects; Cerebral vascular malformations; Neurotransmitter Defects; Brain Channelopathies; Glycogen Storage Diseases; Neurodegeneration with brain iron accumulation; Leukodystrophy; Dystonia and Chorea; Peroxisomal Disorders; Metal Metabolism Disorders; Pain syndromes","entity_name":null,"entity_type":null},{"created":"2026-02-20T07:04:08.350664+11:00","panel_name":"Neuromuscular Superpanel","panel_id":4092,"panel_version":"4.368","user_name":"Bryony Thompson","item_type":"panel","text":"Changed child panels to: Ataxia; Hereditary Neuropathy; Hereditary Spastic Paraplegia; Muscular dystrophy and myopathy_Paediatric; Limb-Girdle Muscular Dystrophy and Distal Myopathy; Motor Neurone Disease; Rhabdomyolysis and Metabolic Myopathy; Gastrointestinal neuromuscular disease; Congenital Myasthenia; Arthrogryposis; Skeletal Muscle Channelopathies","entity_name":null,"entity_type":null},{"created":"2026-02-19T16:41:29.766111+11:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.76","user_name":"Leah Frajman","item_type":"entity","text":"changed review comment from: Very well reported homozygous founder variant (p.(Phe531Cys)) present in at least nine families with ARVC/D summary in Wei 2024 (PMID: 39253717). Chen 2018 reported 8 individuals homozygous for this variant, however 25% of their heterozygous relatives were were mildly affected (PMID: 30454721). Suggested that fully penetrant when homozygous, but reduced penetrance in the heterozygous state. \r\n\r\nTwo additional families has been reported with the p.(Phe531Cys) in a compound heterozygous state with a multi-exon deletion, and a homozygous splice variant (PMID:33917638).; to: Very well reported homozygous founder variant (p.(Phe531Cys)) present in at least nine families with ARVC/D summary in Wei 2024 (PMID: 39253717). Chen 2018 reported 8 individuals homozygous for this variant, however 25% of their heterozygous relatives were were mildly affected (PMID: 30454721). Suggested that fully penetrant when homozygous, but reduced penetrance in the heterozygous state. \r\n\r\nTwo additional families have been reported with the p.(Phe531Cys) in a compound heterozygous state with a multi-exon deletion, and a homozygous splice variant (PMID:33917638).","entity_name":"DSG2","entity_type":"gene"},{"created":"2026-02-19T16:00:21.685376+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.669","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: NLGN3 were changed from X-linked complex neurodevelopmental disorder MONDO:0100148; {Asperger syndrome susceptibility, X-linked 1} - MIM#300494; {Autism susceptibility, X-linked 1} - MIM#300425 to X-linked complex neurodevelopmental disorder MONDO:0100148; {Autism susceptibility, X-linked 1} - MIM#300425","entity_name":"NLGN3","entity_type":"gene"},{"created":"2026-02-19T16:00:04.506706+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.246","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: NLGN3 were changed from X-linked complex neurodevelopmental disorder MONDO:0100148; {Asperger syndrome susceptibility, X-linked 1} - MIM#300494; {Autism susceptibility, X-linked 1} - MIM#300425 to X-linked complex neurodevelopmental disorder MONDO:0100148; {Autism susceptibility, X-linked 1} - MIM#300425","entity_name":"NLGN3","entity_type":"gene"},{"created":"2026-02-19T15:53:42.090956+11:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.76","user_name":"Leah Frajman","item_type":"entity","text":"changed review comment from: Very well reported homozygous founder variant (p.(Phe531Cys)) present in at least nine families with ARVC/D summary in Wei 2024 (PMID: 39253717). Chen 2018 reported 8 individuals homozygous for this variant, however 25% of their heterozygous relatives were were mildly affected (PMID: 30454721). Suggested that fully penetrant when homozygous, but reduced penetrance in the heterozygous state. \r\n\r\nTwo additional families has been reported with the p.(Phe531Cys) in a compound heterozygous state with a multi-exon deletion, and a homozygous splice variant (PMID:33917638).; to: Very well reported homozygous founder variant (p.(Phe531Cys)) present in at least nine families with ARVC/D summary in Wei 2024 (PMID: 39253717). Chen 2018 reported 8 individuals homozygous for this variant, however 25% of their heterozygous relatives were were mildly affected (PMID: 30454721). Suggested that fully penetrant when homozygous, but reduced penetrance in the heterozygous state. \r\n\r\nTwo additional families has been reported with the p.(Phe531Cys) in a compound heterozygous state with a multi-exon deletion, and a homozygous splice variant (PMID:33917638).","entity_name":"DSG2","entity_type":"gene"},{"created":"2026-02-19T15:53:07.490759+11:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.76","user_name":"Leah Frajman","item_type":"entity","text":"changed review comment from: Very well reported homozygous founder variant (p.(Phe531Cys)) present in at least nine families with ARVC/D summary in Wei 2024 (PMID: 39253717). Chen 2018 reported 8 individuals homozygous for this variant, however 25% of their heterozygous relatives were were mildly affected (PMID: 30454721). Suggested that fully penetrant when homozygous, but reduced penetrance in the heterozygous state. \r\n\r\nTwo additional families has been reported with the p.(Phe531Cys) in a compound heterozygous state with a multi-exon deletion, and a homozygous splice variant (PMID:33917638).; to: Very well reported homozygous founder variant (p.(Phe531Cys)) present in at least nine families with ARVC/D summary in Wei 2024 (PMID: 39253717). Chen 2018 reported 8 individuals homozygous for this variant, however 25% of their heterozygous relatives were were mildly affected (PMID: 30454721). Suggested that fully penetrant when homozygous, but reduced penetrance in the heterozygous state. \r\n\r\nTwo additional families has been reported with the p.(Phe531Cys) in a compound heterozygous state with a multi-exon deletion, and a homozygous splice variant (PMID:33917638).","entity_name":"DSG2","entity_type":"gene"},{"created":"2026-02-19T15:52:57.357605+11:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.76","user_name":"Leah Frajman","item_type":"entity","text":"reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39253717, 30454721, 33917638; Phenotypes: Arrhythmogenic right ventricular dysplasia 10 (MIM#610193); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DSG2","entity_type":"gene"},{"created":"2026-02-19T14:59:20.747689+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4345","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: NLGN3 were changed from X-linked complex neurodevelopmental disorder MONDO:0100148; {Asperger syndrome susceptibility, X-linked 1} - MIM#300494; {Autism susceptibility, X-linked 1} - MIM#300425 to X-linked complex neurodevelopmental disorder MONDO:0100148; {Autism susceptibility, X-linked 1} - MIM#300425","entity_name":"NLGN3","entity_type":"gene"},{"created":"2026-02-19T13:45:17.052847+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4344","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CCDC141 were changed from Anosmic hypogonadotropic hypogonadism to congenital hypogonadotropic hypogonadism, MONDO:0015770, CCDC141-related","entity_name":"CCDC141","entity_type":"gene"},{"created":"2026-02-19T13:45:01.689795+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4343","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CCDC141 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CCDC141","entity_type":"gene"},{"created":"2026-02-19T13:35:48.528991+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.424","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: SCN5A were changed from Long QT syndrome 3 (MIM#603830); Sick sinus syndrome 1, MIM# 608567; Ventricular fibrillation, familial, 1, MIM# 603829; Brugada syndrome 1, MIM# 601144; Heart block, progressive, type IA, MIM# 113900; Cardiomyopathy, dilated, 1E, MIM# 601154 to Long QT syndrome 3 (MIM#603830); Sick sinus syndrome 1, MIM# 608567; Ventricular fibrillation, familial, 1, MIM# 603829; Brugada syndrome 1, MIM# 601144; Heart block, progressive, type IA, MIM# 113900; Cardiomyopathy, dilated, 1E, MIM# 601154; SCN5A-related cardiac rhythm disorder MONDO:1010181","entity_name":"SCN5A","entity_type":"gene"},{"created":"2026-02-19T13:35:06.134346+11:00","panel_name":"Cardiac conduction disease","panel_id":4422,"panel_version":"1.6","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: SCN5A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: SCN5A-related cardiac rhythm disorder MONDO:1010181; Mode of inheritance: None","entity_name":"SCN5A","entity_type":"gene"},{"created":"2026-02-19T13:34:27.590551+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.28","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADCY3 were set to 11055432; 29311636; 29311637","entity_name":"ADCY3","entity_type":"gene"},{"created":"2026-02-19T13:34:12.071892+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.27","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADCY3 as Green List (high evidence)","entity_name":"ADCY3","entity_type":"gene"},{"created":"2026-02-19T13:34:12.061803+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adcy3 has been classified as Green List (High Evidence).","entity_name":"ADCY3","entity_type":"gene"},{"created":"2026-02-19T13:34:00.609855+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.26","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ADCY3: Added comment: PMID 39519366: reports a single consanguineous Pakistani family with a 4‑year‑old girl who presented with early‑onset severe obesity, hyperphagia, insulin resistance (acanthosis nigricans), and mild hepatomegaly. Exome‑panel sequencing identified a novel homozygous nonsense variant c.2520C>G (p.Thr840X). In vitro assays in 3T3‑L1 cells demonstrated markedly reduced CRE/SRE‑luciferase activity, lower cAMP production, increased lipid accumulation, and diminished lipolysis for the mutant protein, while structural modelling showed loss of the intracellular G‑protein‑binding segment.; Changed rating: GREEN; Changed publications: 11055432, 29311636, 29311637, 39519366","entity_name":"ADCY3","entity_type":"gene"}]}