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"count": 220959,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=207",
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{
"created": "2025-06-22T18:44:45.471730+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: GGPS1 was added\ngene: GGPS1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: GGPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GGPS1 were set to 32399598; 32403198\nPhenotypes for gene: GGPS1 were set to Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MMIM#\t619518\nReview for gene: GGPS1 was set to GREEN\nAdded comment: FeRGI database- moderate evidence for POI- PMID:32399598, 32403198- biallelic variants reported. Also in mice, PMID: 32403198 found that homozygosity for the Y259C missense variant was embryonic lethal. \nSources: Literature",
"entity_name": "GGPS1",
"entity_type": "gene"
},
{
"created": "2025-06-22T18:41:17.232288+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: FeRGI database- strong evidence for Hypogonadotropic hypogonadism- multiple literature reported monoallelic variants. \nSources: Literature; to: FeRGI database- strong evidence for Hypogonadotropic hypogonadism- multiple literature reported monoallelic missense/LOF variants. \r\nSources: Literature",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2025-06-22T18:41:01.233970+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: FGFR1: Changed publications: 28008864, 26708526, 22035731, 21682876, 17154279, 16764984, 32485746; Changed phenotypes: Hypogonadotropic hypogonadism 2 with or without anosmia , MIM#147950",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2025-06-22T18:39:15.546825+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: FGFR1 was added\ngene: FGFR1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FGFR1 were set to 28008864; 26708526; 17154279; 21682876; 16764984\nPhenotypes for gene: FGFR1 were set to Hypogonadotropic hypogonadism 2 with or without anosmia\t, MIM#147950\nReview for gene: FGFR1 was set to GREEN\nAdded comment: FeRGI database- strong evidence for Hypogonadotropic hypogonadism- multiple literature reported monoallelic variants. \nSources: Literature",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2025-06-22T18:10:43.467870+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: FANCM was added\ngene: FANCM was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FANCM were set to 33036707; 29231814; 30075111; 29895858; 38927643\nPhenotypes for gene: FANCM were set to Premature ovarian failure 15, MIM# 618096; Spermatogenic failure 28, MIM# 618086\nReview for gene: FANCM was set to GREEN\nAdded comment: FeRGI database- moderate evidence for POI- PMID:33036707,29231814- biallelic variants reported\r\n\r\nEvidence for Spermatogenic failure 28, MIM# 618086 (AR)- PMID: 30075111, 29895858, 38927643- biallelic variants in males with NOA/SCOS phenotypes \nSources: Literature",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2025-06-22T18:00:38.146475+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: ERCC6 was added\ngene: ERCC6 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: ERCC6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ERCC6 were set to 26218421; 33109206; 33538981; 39277148; 35975393\nPhenotypes for gene: ERCC6 were set to Premature ovarian failure 11, MIM# 616946\nReview for gene: ERCC6 was set to GREEN\nAdded comment: FeRGI database- moderate evidence for POI- PMID:26218421, 33109206, 33538981 (heterozygous variants reported)\r\n\r\nNew papers: \r\ni) PMID: 39277148- Two different missense p.Val127Ile and p.Glu1408 Ala in 4 POI patients with RNA and protein expression absent/decreased in patients.\r\n\r\nii) PMID: 35975393- A novel het p.GLy815Asp in a POI patient and Swiss-Model revealed that the mutant amino acid formed multiple H-bonds with adjacent residues, which may lead to a dysfunction of ERCC6 protein. \nSources: Literature",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:58:01.783727+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: FeRGI db- Strong for POI (Woodhouse-Sakati syndrome, MIM#241080)- biallelic variants reported in multiple literature with hypogonadism as one of the phenotypes- https://www.eshre.eu/Files/Fergi/DCAF17_var.pdf \r\nSources: Literature; to: FeRGI db- Strong for POI (Woodhouse-Sakati syndrome, MIM#241080)- biallelic variants reported in multiple literature with hypogonadism as one of the phenotypes.\r\nSources: Literature",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:57:52.021945+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: FeRGI db-Strong for POI (Woodhouse-Sakati syndrome)- biallelic variants reported in multiple literature- https://www.eshre.eu/Files/Fergi/DCAF17_var.pdf \nSources: Literature; to: FeRGI db- Strong for POI (Woodhouse-Sakati syndrome, MIM#241080)- biallelic variants reported in multiple literature with hypogonadism as one of the phenotypes- https://www.eshre.eu/Files/Fergi/DCAF17_var.pdf \r\nSources: Literature",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:56:15.152820+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: DCAF17 was added\ngene: DCAF17 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DCAF17 were set to 33819414; 27240811; 20507343; 34630532; 31347785; 34590781; 29574468\nPhenotypes for gene: DCAF17 were set to Hypergonadotropic/ Hypogonadotropic Hypogonadism\nReview for gene: DCAF17 was set to GREEN\nAdded comment: FeRGI db-Strong for POI (Woodhouse-Sakati syndrome)- biallelic variants reported in multiple literature- https://www.eshre.eu/Files/Fergi/DCAF17_var.pdf \nSources: Literature",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:51:13.081145+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: FeRGI database- Strong evidence for POI (Perrault syndrome 3- premature ovarian failure (POF) secondary to ovarian dysgenesis)- PMID:27087618, 23541340,32399598,33538981 (biallelic variants reported) \r\nSources: Literature; to: FeRGI database- Strong evidence for POI (Perrault syndrome 3- POI secondary to ovarian dysgenesis)- PMID:27087618, 23541340,32399598,33538981 (biallelic variants reported) \r\nSources: Literature",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:51:03.158458+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: FeRGI database- Strong evidence for POI (Perrault syndrome 3)- PMID:27087618, 23541340,32399598,33538981 (biallelic variants reported) \nSources: Literature; to: FeRGI database- Strong evidence for POI (Perrault syndrome 3- premature ovarian failure (POF) secondary to ovarian dysgenesis)- PMID:27087618, 23541340,32399598,33538981 (biallelic variants reported) \r\nSources: Literature",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:50:33.801940+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: CLPP was added\ngene: CLPP was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLPP were set to 27087618; 23541340; 32399598; 33538981\nPhenotypes for gene: CLPP were set to Perrault syndrome 3, MIM# 614129\nReview for gene: CLPP was set to GREEN\nAdded comment: FeRGI database- Strong evidence for POI (Perrault syndrome 3)- PMID:27087618, 23541340,32399598,33538981 (biallelic variants reported) \nSources: Literature",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:47:19.103861+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: C14orf39 was added\ngene: C14orf39 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: C14orf39 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C14orf39 were set to 33508233; 34718620; 27796301\nPhenotypes for gene: C14orf39 were set to Premature ovarian failure 18, MIM# 619203; Spermatogenic failure 52, MIM# 619202\nReview for gene: C14orf39 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "C14orf39",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:43:49.992117+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: BRCA2: Changed publications: 32482800, 30207912, 30865812",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:43:10.251334+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: BRCA2 was added\ngene: BRCA2 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BRCA2 were set to 32482800; 30207912\nPhenotypes for gene: BRCA2 were set to Premature ovarian failure\nReview for gene: BRCA2 was set to GREEN\nAdded comment: FeRGI database- limited evidence for POI/ovarian dysgenesis- PMID:32482800,30207912- biallelic variants reported \nSources: Literature",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:40:31.941431+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: BNC1: Changed publications: 32962729, 30010909, 39595984, 39462784",
"entity_name": "BNC1",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:40:18.299159+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: FeRGI database- Moderate evidence for POI- PMID:32962729,30010909 (Reported monoallelic and biallelic variants) \nSources: Literature; to: FeRGI database- Moderate evidence for POI- PMID:32962729,30010909 (Reported monoallelic and biallelic variants) \r\n\r\nNew papers reported monoallelic variants in POI patients- PMID: 39595984, 39462784\r\n\r\nSources: Literature",
"entity_name": "BNC1",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:38:03.933412+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: BNC1 was added\ngene: BNC1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: BNC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: BNC1 were set to 32962729; 30010909\nPhenotypes for gene: BNC1 were set to Premature ovarian failure 16, MIM# 618723\nReview for gene: BNC1 was set to GREEN\nAdded comment: FeRGI database- Moderate evidence for POI- PMID:32962729,30010909 (Reported monoallelic and biallelic variants) \nSources: Literature",
"entity_name": "BNC1",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:35:25.463135+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: ANKRD31 was added\ngene: ANKRD31 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: ANKRD31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANKRD31 were set to 34794894; 34257419; 31003867\nPhenotypes for gene: ANKRD31 were set to Premature ovarian failure\nReview for gene: ANKRD31 was set to GREEN\nAdded comment: i) PMID: 34794894, PMID: 34257419- Three unrelated cases with premature ovarian failure and loss of function variants (het p.Q329∗ and c.1565-2A>G). Both mutations weakened the interaction between ANKRD31 and REC114 and were unable to further stabilise and regulate the binding of downstream DSB-forming proteins to chromatin. Mice with knocked out Ankrd31 have been reported to result in an increase in the number of DSBs and the enabling of the default DSB site, which also results in decremental efficiency of the regulation of DSB formation and may be responsible for the loss of synapsis and the delay in DSB repair (PMID: 31000436). \r\n\r\nii) PMID: 31003867- Unrepaired DSBs and pairing failures-stochastic on autosomes, nearly absolute on X and Y-cause meiotic arrest and sterility in males. Ankrd31-deficient females have reduced oocyte reserves. This gene plays a role in DNA double strand breaks formation. \nSources: Literature",
"entity_name": "ANKRD31",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:32:38.719015+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: POLR3B was added\ngene: POLR3B was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLR3B were set to 25339210; 27512013; 26113998; 22036171; 22036172; 32319736; 26113998\nPhenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 614381\nReview for gene: POLR3B was set to GREEN\nAdded comment: Intolerome database- candidate gene for spontaneous miscarriage, FeRGI db- limited evidence for POI.\r\n\r\nMouse evidence-\r\ni) PMID: 31221184-Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis. Using proteomics in a human cell line, POLR3B R103H mutation severely impairs assembly of the Pol III complex. Their mouse model indicates that the Polr3b R103H variant is embryonically lethal at or before mid-gestation, similarly to Polr3a−/−null mice , which may lead to early developmental arrest. \nSources: Literature",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:29:17.360425+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: PMM2 was added\ngene: PMM2 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PMM2 were set to 31902100; 25497157; 33583911\nPhenotypes for gene: PMM2 were set to Primary ovarian failure\nReview for gene: PMM2 was set to GREEN\nAdded comment: FeRGI db- moderate evidence for Congenital disorder of glycosylation (POI)- PMID:31902100, 25497157, 33583911(reported biallelic variants) \nSources: Literature",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:23:53.118561+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: HARS2: Changed publications: 31449985, 21464306, 34406847",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:23:40.054530+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: HARS2 was added\ngene: HARS2 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HARS2 were set to 31449985,21464306, 34406847\nPhenotypes for gene: HARS2 were set to Perrault syndrome 2, MIM# 614926\nReview for gene: HARS2 was set to GREEN\nAdded comment: FeRGI database- strong evidence for Perrault syndrome (POI)- PMID:31449985,21464306, 34406847(reported biallelic variants) \nSources: Literature",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:20:44.864608+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: Various homozygous or compound heterozygous reported by many papers (See https://omim.org/entry/138850?search=GNRHR&highlight=gnrhr#molecularGenetics)- showed phenotypic variability with varying degrees of alteration of gonadotropin function in affected members of the same family (some may be fertile while some may not).\r\n\r\nBerkay et al. 2023 (PMID: 36385415)- Reported a case with recurrent pregnancy loss, recurrent implantation failure and primary infertility (C34- het missense p.Gln106Arg with Clinvar entry- VC V000016023.12 with multiple submissions P/LP for infertility disorder or Hypogonadotropic hypogonadism, called P) \r\nSources: Literature; to: Various homozygous or compound heterozygous reported by many papers (See https://omim.org/entry/138850?search=GNRHR&highlight=gnrhr#molecularGenetics)- showed phenotypic variability with varying degrees of alteration of gonadotropin function in affected members of the same family (some may be fertile while some may not).\r\n\r\nBerkay et al. 2023 (PMID: 36385415)- Reported a case with recurrent pregnancy loss, recurrent implantation failure and primary infertility (C34- het missense p.Gln106Arg with Clinvar entry- VC V000016023.12 with multiple submissions P/LP for infertility disorder or Hypogonadotropic hypogonadism, called P) \r\nSources: Literature",
"entity_name": "GNRHR",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:20:39.348626+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: Various homozygous or compound heterozygous reported by many papers (See https://omim.org/entry/138850?search=GNRHR&highlight=gnrhr#molecularGenetics)- showed phenotypic variability with varying degrees of alteration of gonadotropin function in affected members of the same family (some may be fertile while some may not).\r\n\r\nBerkay et al. 2023 (PMID: 36385415)- Reported a case with RPL, RIF, PI (C34- het missense p.Gln106Arg with Clinvar entry- VC V000016023.12 with multiple submissions P/LP for infertility disorder or Hypogonadotropic hypogonadism, called P) \nSources: Literature; to: Various homozygous or compound heterozygous reported by many papers (See https://omim.org/entry/138850?search=GNRHR&highlight=gnrhr#molecularGenetics)- showed phenotypic variability with varying degrees of alteration of gonadotropin function in affected members of the same family (some may be fertile while some may not).\r\n\r\nBerkay et al. 2023 (PMID: 36385415)- Reported a case with recurrent pregnancy loss, recurrent implantation failure and primary infertility (C34- het missense p.Gln106Arg with Clinvar entry- VC V000016023.12 with multiple submissions P/LP for infertility disorder or Hypogonadotropic hypogonadism, called P) \r\nSources: Literature",
"entity_name": "GNRHR",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:20:02.406213+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: GNRHR was added\ngene: GNRHR was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: GNRHR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GNRHR were set to 28348023; 9371856; 36385415\nPhenotypes for gene: GNRHR were set to Hypogonadotropic hypogonadism 7 without anosmia, MIM#146110\nReview for gene: GNRHR was set to GREEN\nAdded comment: Various homozygous or compound heterozygous reported by many papers (See https://omim.org/entry/138850?search=GNRHR&highlight=gnrhr#molecularGenetics)- showed phenotypic variability with varying degrees of alteration of gonadotropin function in affected members of the same family (some may be fertile while some may not).\r\n\r\nBerkay et al. 2023 (PMID: 36385415)- Reported a case with RPL, RIF, PI (C34- het missense p.Gln106Arg with Clinvar entry- VC V000016023.12 with multiple submissions P/LP for infertility disorder or Hypogonadotropic hypogonadism, called P) \nSources: Literature",
"entity_name": "GNRHR",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:13:44.511199+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: Premature ovarian insufficiency (POI) is a later complication that affects 80% of women with classic galactosaemia (CG) due to a significant decline in ovarian reserve (primordial follicle pool). The definite mechanisms underlying the early onset of POI in CG patients are not fully understood. (PMID: 39440457).\r\n\r\nFeRGI database- moderate evidence for POI- PMID:19733849, 34433538, 31042289.\r\n\r\nOther paper:\r\ni) PMID: 34730073- a patient with classic galactosemia and the Q188R/K285N GALT mutation, who conceived spontaneously twice despite severe ovarian failure. \nSources: Literature; to: Premature ovarian insufficiency (POI) is a later complication that affects 80% of women with classic galactosaemia (CG) due to a significant decline in ovarian reserve (primordial follicle pool). The definite mechanisms underlying the early onset of POI in CG patients are not fully understood. (PMID: 39440457).\r\n\r\nFeRGI database- moderate evidence for POI- PMID:19733849, 34433538, 31042289 (Reported biallelic variants)\r\n\r\nOther paper:\r\ni) PMID: 34730073- a patient with classic galactosemia and the Q188R/K285N GALT mutation, who conceived spontaneously twice despite severe ovarian failure. \r\nSources: Literature",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:13:15.810648+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: GALT was added\ngene: GALT was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GALT were set to 39440457; 19733849; 34433538; 31042289; 34730073\nPhenotypes for gene: GALT were set to Premature ovarian failure\nReview for gene: GALT was set to GREEN\nAdded comment: Premature ovarian insufficiency (POI) is a later complication that affects 80% of women with classic galactosaemia (CG) due to a significant decline in ovarian reserve (primordial follicle pool). The definite mechanisms underlying the early onset of POI in CG patients are not fully understood. (PMID: 39440457).\r\n\r\nFeRGI database- moderate evidence for POI- PMID:19733849, 34433538, 31042289.\r\n\r\nOther paper:\r\ni) PMID: 34730073- a patient with classic galactosemia and the Q188R/K285N GALT mutation, who conceived spontaneously twice despite severe ovarian failure. \nSources: Literature",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:09:02.715503+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: EIF2B4 was added\ngene: EIF2B4 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EIF2B4 were set to 11835386; 12707859; 14566705; 25600065; 26043506\nPhenotypes for gene: EIF2B4 were set to Ovarioleukodystrophy, MIM# 620314\nReview for gene: EIF2B4 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:06:21.128331+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: EIF2B5: Changed publications: 12707859, 18005052, 33245593",
"entity_name": "EIF2B5",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:06:05.497474+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: EIF2B5: Changed publications: 12707859, 18005052, 33245593.",
"entity_name": "EIF2B5",
"entity_type": "gene"
},
{
"created": "2025-06-22T17:05:54.984012+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: EIF2B5 was added\ngene: EIF2B5 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EIF2B5 were set to PMID:12707859; 18005052; 33245593.\nPhenotypes for gene: EIF2B5 were set to Ovarioleukodystrophy, MIM# 620315\nReview for gene: EIF2B5 was set to GREEN\nAdded comment: FeRGI database- strong evidence for POI- biallelic variants reported in PMID:12707859, 18005052,33245593. \nSources: Literature",
"entity_name": "EIF2B5",
"entity_type": "gene"
},
{
"created": "2025-06-21T05:50:06.726836+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2663",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: TBC1D32: Rating: GREEN; Mode of pathogenicity: None; Publications: 37768732; Phenotypes: retinitis pigmentosa, MONDO:0019200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2025-06-20T03:20:51.369905+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2663",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: RPL17 was added\ngene: RPL17 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RPL17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPL17 were set to 39088281\nPhenotypes for gene: RPL17 were set to Diamond-Blackfan anemia, MONDO:0015253\nReview for gene: RPL17 was set to GREEN\nAdded comment: PMID:39088281 reported two different pedigrees identified with monoallelic variants in RPL17 gene (3C>G & c.452delC/ p.(Thr151Argfs*25). Affected individuals from both pedigrees exhibited clinical features and erythroid proliferation defects consistent with Diamond-Blackfan anaemia. Individuals from first family also presented with skeletal abnormalities, which were not reported in family 2. Modelling of rpl17 deficiency in zebrafish recapitulated the major clinical features of the disorder including anaemia and micrognathia. There is also functional evidence available from lymphoblastoid cell lines (LCLs) derived from patients, which displayed a ribosomal RNA maturation defect reflecting haploinsufficiency of RPL17. \r\n\r\nThis gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype. \nSources: Literature",
"entity_name": "RPL17",
"entity_type": "gene"
},
{
"created": "2025-06-18T20:44:15.922304+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IKZF2 as ready",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2025-06-18T20:44:15.910532+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikzf2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2025-06-18T20:43:54.676824+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IKZF2 as Amber List (moderate evidence)",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2025-06-18T20:43:54.667538+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikzf2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2025-06-18T20:43:27.316217+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IKZF2 was added\ngene: IKZF2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: IKZF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IKZF2 were set to 37316189\nPhenotypes for gene: IKZF2 were set to Immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay, MIM# 621234\nReview for gene: IKZF2 was set to AMBER\nAdded comment: PMID 37316189: two individuals with de novo variants and syndromic immunodysregulation, including craniofacial anomalies, hearing impairment, athelia, and developmental delay.\r\n\r\nNote that variants in this gene are also associated with non-syndromic immune dysregulation and non-syndromic HL. Genotype-phenotype correlation unclear. \nSources: Literature",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2025-06-18T20:40:05.816776+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IKZF2 were changed from Immunodysregulation with variable immunodeficiency and autoimmunity, MIM#\t621233; nonsyndromic genetic hearing loss MONDO:0019497, IKZF2-related to Immunodysregulation with variable immunodeficiency and autoimmunity, MIM#\t621233; Immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay, MIM# 621234; nonsyndromic genetic hearing loss MONDO:0019497, IKZF2-related",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2025-06-18T20:39:26.581014+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IKZF2 were set to 34920454; 34826259; 39406892",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2025-06-18T20:39:00.659744+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IKZF2: Added comment: PMID 37316189: two individuals with de novo variants and syndromic immunodysregulation, including craniofacial anomalies, hearing impairment, athelia, and developmental delay.; Changed publications: 34920454, 34826259, 37316189; Changed phenotypes: Immunodysregulation with variable immunodeficiency and autoimmunity, MIM# 621233, Immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay, MIM# 621234",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2025-06-18T20:37:47.480316+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IKZF2 were changed from Immunodysregulation with variable immunodeficiency and autoimmunity, MIM# 621233 to Immunodysregulation with variable immunodeficiency and autoimmunity, MIM# 621233; Immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay, MIM# 621234",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2025-06-18T20:37:06.615480+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IKZF2 were set to 34920454; 34826259",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2025-06-18T20:36:30.008791+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IKZF2: Added comment: PMID 37316189: two individuals with de novo variants and syndromic immunodysregulation, including craniofacial anomalies, hearing impairment, athelia, and developmental delay.; Changed publications: 37316189; Changed phenotypes: Immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay, MIM# 621234",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2025-06-18T20:30:28.375048+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IKZF2 were changed from Immunodeficiency, MONDO:0021094, IKZF2-related; Immune dysregulation to Immunodysregulation with variable immunodeficiency and autoimmunity, MIM# 621233",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2025-06-18T20:29:46.091395+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IKZF2: Changed phenotypes: Immunodysregulation with variable immunodeficiency and autoimmunity, MIM# 621233",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2025-06-18T20:29:20.600938+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IKZF2 were changed from Immunodeficiency, MONDO:0021094, IKZF2-related; Immune dysregulation; nonsyndromic genetic hearing loss MONDO:0019497, IKZF2-related to Immunodysregulation with variable immunodeficiency and autoimmunity, MIM#\t621233; nonsyndromic genetic hearing loss MONDO:0019497, IKZF2-related",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2025-06-18T20:28:40.598704+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IKZF2: Changed phenotypes: Immunodysregulation with variable immunodeficiency and autoimmunity, MIM# 621233",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2025-06-17T14:49:37.228989+10:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: BMP6 as Amber List (moderate evidence)",
"entity_name": "BMP6",
"entity_type": "gene"
},
{
"created": "2025-06-17T14:49:37.225899+10:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: limited classification by clingen",
"entity_name": "BMP6",
"entity_type": "gene"
},
{
"created": "2025-06-17T14:49:37.202407+10:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: bmp6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BMP6",
"entity_type": "gene"
},
{
"created": "2025-06-17T14:49:00.691556+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2660",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: BMP6 as Amber List (moderate evidence)",
"entity_name": "BMP6",
"entity_type": "gene"
},
{
"created": "2025-06-17T14:49:00.682081+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2660",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: bmp6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BMP6",
"entity_type": "gene"
},
{
"created": "2025-06-17T06:23:30.691575+10:00",
"panel_name": "Genomic newborn screening: ICoNS",
"panel_id": 4456,
"panel_version": "0.4",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: AK2 was added\ngene: AK2 was added to Genomic newborn screening: ICoNS. Sources: Expert list\nMode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2025-06-16T19:29:50.803718+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LDB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 36253531; Phenotypes: Cardiomyopathy, dilated, 2L, MIM# 621237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LDB3",
"entity_type": "gene"
},
{
"created": "2025-06-16T19:26:27.817761+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LDB3 were changed from Cardiomyopathy, dilated, 1C, with or without LVNC, MIM# 601493 to Cardiomyopathy, dilated, 1C, with or without LVNC, MIM# 601493; Cardiomyopathy, dilated, 2L, MIM# 621237",
"entity_name": "LDB3",
"entity_type": "gene"
},
{
"created": "2025-06-16T19:26:03.703525+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LDB3: Added comment: 5 families with bi-allelic variants and severe, perinatal onset DCM.; Changed publications: 36253531; Changed phenotypes: Cardiomyopathy, dilated, 1C, with or without LVNC, MIM# 601493, Cardiomyopathy, dilated, 2L, MIM# 621237",
"entity_name": "LDB3",
"entity_type": "gene"
},
{
"created": "2025-06-16T19:25:11.212328+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 5 families reported with bi-allelic variants and severe, perinatal onset DCM.; to: 5 families reported with bi-allelic variants and severe, perinatal onset DCM. However, note scope of panel is adolescent/adult onset DCM, therefore retain Amber rating which relates to mono-allelic disease in the adult context.",
"entity_name": "LDB3",
"entity_type": "gene"
},
{
"created": "2025-06-16T19:24:20.360099+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LDB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 36253531; Phenotypes: Cardiomyopathy, dilated, 2L, MIM# 621237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LDB3",
"entity_type": "gene"
},
{
"created": "2025-06-16T19:23:06.059075+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LDB3 were changed from Cardiomyopathy, dilated, 1C, with or without LVNC MIM#601493; Cardiomyopathy, hypertrophic, 24 MIM#601493; Left ventricular noncompaction 3 MIM#601493; Myopathy, myofibrillar, 4 MIM#609452 to Cardiomyopathy, dilated, 2L, MIM# 621237; Cardiomyopathy, dilated, 1C, with or without LVNC MIM#601493; Cardiomyopathy, hypertrophic, 24 MIM#601493; Left ventricular noncompaction 3 MIM#601493; Myopathy, myofibrillar, 4 MIM#609452",
"entity_name": "LDB3",
"entity_type": "gene"
},
{
"created": "2025-06-16T19:22:44.253157+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LDB3 were set to 26419279; 16427346; 14660611; 14662268; 27546599; 25911362",
"entity_name": "LDB3",
"entity_type": "gene"
},
{
"created": "2025-06-16T19:22:16.713836+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LDB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 36253531; Phenotypes: Cardiomyopathy, dilated, 2L, MIM# 621237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LDB3",
"entity_type": "gene"
},
{
"created": "2025-06-16T12:11:01.277409+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2657",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: THPO was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2025-06-14T08:31:23.795805+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NLRP14 as Amber List (moderate evidence)",
"entity_name": "NLRP14",
"entity_type": "gene"
},
{
"created": "2025-06-14T08:31:23.786434+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlrp14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NLRP14",
"entity_type": "gene"
},
{
"created": "2025-06-14T08:31:05.049525+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MEI1 as ready",
"entity_name": "MEI1",
"entity_type": "gene"
},
{
"created": "2025-06-14T08:31:05.041917+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mei1 has been classified as Green List (High Evidence).",
"entity_name": "MEI1",
"entity_type": "gene"
},
{
"created": "2025-06-14T08:30:58.837924+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MEI1 were set to 30388401",
"entity_name": "MEI1",
"entity_type": "gene"
},
{
"created": "2025-06-14T08:30:42.513820+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MEI1 as Green List (high evidence)",
"entity_name": "MEI1",
"entity_type": "gene"
},
{
"created": "2025-06-14T08:30:42.507268+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mei1 has been classified as Green List (High Evidence).",
"entity_name": "MEI1",
"entity_type": "gene"
},
{
"created": "2025-06-14T08:30:12.350927+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAJIN as ready",
"entity_name": "MAJIN",
"entity_type": "gene"
},
{
"created": "2025-06-14T08:30:12.343966+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: majin has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAJIN",
"entity_type": "gene"
},
{
"created": "2025-06-14T08:29:56.313897+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAJIN as Amber List (moderate evidence)",
"entity_name": "MAJIN",
"entity_type": "gene"
},
{
"created": "2025-06-14T08:29:56.306789+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: majin has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAJIN",
"entity_type": "gene"
},
{
"created": "2025-06-14T06:13:19.225434+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP2A2 were changed from Congenital myopathy, MONDO:0019952, ATP2A2-related; rhabdomyolysis to Congenital myopathy, MONDO:0019952, ATP2A2-related; {Rhabdomyolysis, susceptibility to, 2}, MIM# 621236",
"entity_name": "ATP2A2",
"entity_type": "gene"
},
{
"created": "2025-06-14T06:13:01.668437+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP2A2: Changed phenotypes: Congenital myopathy, MONDO:0019952, ATP2A2-related, {Rhabdomyolysis, susceptibility to, 2}, MIM# 621236",
"entity_name": "ATP2A2",
"entity_type": "gene"
},
{
"created": "2025-06-14T06:12:38.737532+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP2A2 were changed from Acrokeratosis verruciformis MIM#101900; Darier disease MIM#124200; Congenital myopathy, MONDO:0019952, ATP2A2-related; rhabdomyolysis to Acrokeratosis verruciformis MIM#101900; Darier disease MIM#124200; Congenital myopathy, MONDO:0019952, ATP2A2-related; {Rhabdomyolysis, susceptibility to, 2}, MIM# 621236",
"entity_name": "ATP2A2",
"entity_type": "gene"
},
{
"created": "2025-06-14T06:12:03.030207+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP2A2: Changed phenotypes: Congenital myopathy, MONDO:0019952, ATP2A2-related, {Rhabdomyolysis, susceptibility to, 2}, MIM# 621236",
"entity_name": "ATP2A2",
"entity_type": "gene"
},
{
"created": "2025-06-13T09:33:37.025307+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2655",
"user_name": "Monica Petica",
"item_type": "entity",
"text": "changed review comment from: Complex neurodevelopmental features (especially developmental delay, speech delay and motor delay) appear to be associated with haploinsufficiency of this gene. \r\n\r\nCarbonell (PMID: 31388001) - reports deletions in seven families, two paternally inherited listed as affected. Five of these families carry frameshift deletions predicted to undergo NMD. While there are two shorter transcripts for the gene (AIDA-1C and AIDA 1D), the short isoforms showed reduced transcription similarly to the long isoform (AIDA-1B, MANE NM_001352186.2) - as tested in probands compared to their mothers who were unaffected and not carriers of the deletions. \r\n\r\nHoon Cho (PMID: 38129387) - presents five additional ANKS1B deletion patients. They list the variants as multigenic although they appear to only affect ANKS1B. The patients are listed to have neurodevelopmental syndrome and white matter/corpus callosum abnormalities on MRI. One of the five carries a frameshift deletion (35 year old male). Note: the nine patients listed at the top of Figure 1 are from Carbonell. Paper includes supportive mouse studies. \r\nSources: Literature\r\n\r\ngnomAD and dgv gold frequency is insufficient.; to: Complex neurodevelopmental features (especially developmental delay, speech delay and motor delay) appear to be associated with haploinsufficiency of this gene. \r\n\r\nCarbonell (PMID: 31388001) - reports deletions in seven families, two paternally inherited (fathers listed as affected). Five of these families carry frameshift deletions predicted to undergo NMD. While there are two shorter transcripts for the gene (AIDA-1C and AIDA 1D), the short isoforms showed reduced transcription similarly to the long isoform (AIDA-1B, MANE NM_001352186.2) - as tested in probands compared to their mothers who were unaffected and not carriers of the deletions. \r\n\r\nHoon Cho (PMID: 38129387) - presents five additional ANKS1B deletion patients. They list the variants as multigenic although they appear to only affect ANKS1B. The patients are listed to have neurodevelopmental syndrome and white matter/corpus callosum abnormalities on MRI. One of the five carries a frameshift deletion (35 year old male). Note: the nine patients listed at the top of Figure 1 are from Carbonell. Paper includes supportive mouse studies. \r\nSources: Literature\r\n\r\ngnomAD and dgv gold frequency is insufficient.",
"entity_name": "ANKS1B",
"entity_type": "gene"
},
{
"created": "2025-06-13T09:33:02.884029+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2655",
"user_name": "Monica Petica",
"item_type": "entity",
"text": "changed review comment from: Complex neurodevelopmental features (especially developmental delay, speech delay and motor delay) appear to be associated with haploinsufficiency of this gene. \r\n\r\nCarbonell (PMID: 31388001) - reports deletions in seven families, two paternally inherited from fathers listed as affected. Five of these families carry frameshift deletions predicted to undergo NMD. While there are two shorter transcripts for the gene (AIDA-1C and AIDA 1D), the short isoforms showed reduced transcription similarly to the long isoform (AIDA-1B, MANE NM_001352186.2) - as tested in probands compared to their mothers who were unaffected and not carriers of the deletions. \r\n\r\nHoon Cho (PMID: 38129387) - presents five additional ANKS1B deletion patients. They list the variants as multigenic although they appear to only affect ANKS1B. The patients are listed to have neurodevelopmental syndrome and white matter/corpus callosum abnormalities on MRI. One of the five carries a frameshift deletion (35 year old male). Note: the nine patients listed at the top of Figure 1 are from Carbonell. Paper includes supportive mouse studies. \r\nSources: Literature\r\n\r\ngnomAD and dgv gold frequency is insufficient.; to: Complex neurodevelopmental features (especially developmental delay, speech delay and motor delay) appear to be associated with haploinsufficiency of this gene. \r\n\r\nCarbonell (PMID: 31388001) - reports deletions in seven families, two paternally inherited listed as affected. Five of these families carry frameshift deletions predicted to undergo NMD. While there are two shorter transcripts for the gene (AIDA-1C and AIDA 1D), the short isoforms showed reduced transcription similarly to the long isoform (AIDA-1B, MANE NM_001352186.2) - as tested in probands compared to their mothers who were unaffected and not carriers of the deletions. \r\n\r\nHoon Cho (PMID: 38129387) - presents five additional ANKS1B deletion patients. They list the variants as multigenic although they appear to only affect ANKS1B. The patients are listed to have neurodevelopmental syndrome and white matter/corpus callosum abnormalities on MRI. One of the five carries a frameshift deletion (35 year old male). Note: the nine patients listed at the top of Figure 1 are from Carbonell. Paper includes supportive mouse studies. \r\nSources: Literature\r\n\r\ngnomAD and dgv gold frequency is insufficient.",
"entity_name": "ANKS1B",
"entity_type": "gene"
},
{
"created": "2025-06-13T09:24:35.748764+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2655",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: CCM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19088123, 31446422; Phenotypes: cerebral cavernous malformation 2 MONDO:0011304; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CCM2",
"entity_type": "gene"
},
{
"created": "2025-06-12T18:12:48.948163+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANKS1B as Green List (high evidence)",
"entity_name": "ANKS1B",
"entity_type": "gene"
},
{
"created": "2025-06-12T18:12:48.912333+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: anks1b has been classified as Green List (High Evidence).",
"entity_name": "ANKS1B",
"entity_type": "gene"
},
{
"created": "2025-06-12T18:11:47.287480+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANKS1B were changed from Neurodevelopmental syndrome; developmental delay; speech delay; motor delay; autism; intellectual disability to Neurodevelopmental disorder (MONDO:0700092), ANKS1B-related",
"entity_name": "ANKS1B",
"entity_type": "gene"
},
{
"created": "2025-06-12T18:11:03.556993+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANKS1B as Green List (high evidence)",
"entity_name": "ANKS1B",
"entity_type": "gene"
},
{
"created": "2025-06-12T18:11:03.543852+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: anks1b has been classified as Green List (High Evidence).",
"entity_name": "ANKS1B",
"entity_type": "gene"
},
{
"created": "2025-06-12T09:55:45.220735+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2653",
"user_name": "Monica Petica",
"item_type": "entity",
"text": "changed review comment from: Complex neurodevelopmental features (especially developmental delay, speech delay and motor delay) appear to be associated with haploinsufficiency of this gene. \r\n\r\nCarbonell (PMID: 31388001) - reports deletions in seven families, two paternally inherited from parents said to be affected. Five of these families carry frameshift deletions predicted to undergo NMD. While there are two shorter transcripts for the gene (AIDA-1C and AIDA 1D), the short isoforms showed reduced transcription similarly to the long isoform (AIDA-1B, MANE NM_001352186.2) - as tested in probands compared to their mothers who were unaffected and not carriers of the deletions. \r\n\r\nHoon Cho (PMID: 38129387) - presents five additional ANKS1B deletion patients. They list the variants as multigenic although they appear to only affect ANKS1B. The patients are listed to have neurodevelopmental syndrome and white matter/corpus callosum abnormalities on MRI. One of the five carries a frameshift deletion (35 year old male). Note: the nine patients listed at the top of Figure 1 are from Carbonell. Paper includes supportive mouse studies. \r\nSources: Literature\r\n\r\ngnomAD and dgv gold frequency is insufficient.; to: Complex neurodevelopmental features (especially developmental delay, speech delay and motor delay) appear to be associated with haploinsufficiency of this gene. \r\n\r\nCarbonell (PMID: 31388001) - reports deletions in seven families, two paternally inherited from fathers listed as affected. Five of these families carry frameshift deletions predicted to undergo NMD. While there are two shorter transcripts for the gene (AIDA-1C and AIDA 1D), the short isoforms showed reduced transcription similarly to the long isoform (AIDA-1B, MANE NM_001352186.2) - as tested in probands compared to their mothers who were unaffected and not carriers of the deletions. \r\n\r\nHoon Cho (PMID: 38129387) - presents five additional ANKS1B deletion patients. They list the variants as multigenic although they appear to only affect ANKS1B. The patients are listed to have neurodevelopmental syndrome and white matter/corpus callosum abnormalities on MRI. One of the five carries a frameshift deletion (35 year old male). Note: the nine patients listed at the top of Figure 1 are from Carbonell. Paper includes supportive mouse studies. \r\nSources: Literature\r\n\r\ngnomAD and dgv gold frequency is insufficient.",
"entity_name": "ANKS1B",
"entity_type": "gene"
},
{
"created": "2025-06-12T09:55:23.367141+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2653",
"user_name": "Monica Petica",
"item_type": "entity",
"text": "changed review comment from: Complex neurodevelopmental features (especially developmental delay, speech delay and motor delay) appear to be associated with haploinsufficiency of this gene. \r\n\r\nCarbonell (PMID: 31388001) - reports deletions in seven families. Five of these families carry frameshift deletions predicted to undergo NMD. While there are two shorter transcripts for the gene (AIDA-1C and AIDA 1D), the short isoforms showed reduced transcription similarly to the long isoform (AIDA-1B, MANE NM_001352186.2) - as tested in probands compared to their mothers who were unaffected and not carriers of the deletions. \r\n\r\nHoon Cho (PMID: 38129387) - presents five additional ANKS1B deletion patients. They list the variants as multigenic although they appear to only affect ANKS1B. The patients are listed to have neurodevelopmental syndrome and white matter/corpus callosum abnormalities on MRI. One of the five carries a frameshift deletion (35 year old male). Note: the nine patients listed at the top of Figure 1 are from Carbonell. Paper includes supportive mouse studies. \r\nSources: Literature\r\n\r\ngnomAD and dgv gold frequency is insufficient.; to: Complex neurodevelopmental features (especially developmental delay, speech delay and motor delay) appear to be associated with haploinsufficiency of this gene. \r\n\r\nCarbonell (PMID: 31388001) - reports deletions in seven families, two paternally inherited from parents said to be affected. Five of these families carry frameshift deletions predicted to undergo NMD. While there are two shorter transcripts for the gene (AIDA-1C and AIDA 1D), the short isoforms showed reduced transcription similarly to the long isoform (AIDA-1B, MANE NM_001352186.2) - as tested in probands compared to their mothers who were unaffected and not carriers of the deletions. \r\n\r\nHoon Cho (PMID: 38129387) - presents five additional ANKS1B deletion patients. They list the variants as multigenic although they appear to only affect ANKS1B. The patients are listed to have neurodevelopmental syndrome and white matter/corpus callosum abnormalities on MRI. One of the five carries a frameshift deletion (35 year old male). Note: the nine patients listed at the top of Figure 1 are from Carbonell. Paper includes supportive mouse studies. \r\nSources: Literature\r\n\r\ngnomAD and dgv gold frequency is insufficient.",
"entity_name": "ANKS1B",
"entity_type": "gene"
},
{
"created": "2025-06-11T15:48:38.523669+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.173",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: ANKS1B as ready",
"entity_name": "ANKS1B",
"entity_type": "gene"
},
{
"created": "2025-06-11T15:48:38.516378+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.173",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: anks1b has been classified as Red List (Low Evidence).",
"entity_name": "ANKS1B",
"entity_type": "gene"
},
{
"created": "2025-06-11T15:48:22.438443+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.173",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: ANKS1B was added\ngene: ANKS1B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nSV/CNV tags were added to gene: ANKS1B.\nMode of inheritance for gene: ANKS1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANKS1B were set to PMID: 31388001; 38129387\nPhenotypes for gene: ANKS1B were set to neurodevelopmental disorder MONDO:0700092 ANKS1B related\nReview for gene: ANKS1B was set to GREEN\nAdded comment: Intragenic deletions >3indepedant families with developmental delay (speech and motor apraxia and dysmorphism) borderline IQ's, behavioural/ASD, reduced penetrance, most inherited from mildly or not affected parents. Mouse model.\r\n\r\nComplex neurodevelopmental features (especially developmental delay, speech delay and motor delay) appear to be associated with haploinsufficiency of this gene. Carbonell (PMID: 31388001) - reports deletions in seven families. Five of these families carry frameshift deletions predicted to undergo NMD. While there are two shorter transcripts for the gene (AIDA-1C and AIDA 1D), the short isoforms showed reduced transcription similarly to the long isoform (AIDA-1B, MANE NM_001352186.2) - as tested in probands compared to their mothers who were unaffected and not carriers of the deletions. Hoon Cho (PMID: 38129387) - presents five additional ANKS1B deletion patients. They list the variants as multigenic although they appear to only affect ANKS1B. The patients are listed to have neurodevelopmental syndrome and white matter/corpus callosum abnormalities on MRI. One of the five carries a frameshift deletion (35 year old male). Note: the nine patients listed at the top of Figure 1 are from Carbonell. Paper includes supportive mouse studies. Sources: Literature gnomAD and dgv gold frequency is insufficient. \nSources: Literature",
"entity_name": "ANKS1B",
"entity_type": "gene"
},
{
"created": "2025-06-11T15:45:19.488842+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2653",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: ANKS1B as ready",
"entity_name": "ANKS1B",
"entity_type": "gene"
},
{
"created": "2025-06-11T15:45:19.486004+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2653",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Intragenic deletions >3indepedant families with developmental delay (speech and motor apraxia and dysmorphism) borderline IQ's, behavioural/ASD, reduced penetrance, most inherited from mildly or not affected parents. Mouse model.",
"entity_name": "ANKS1B",
"entity_type": "gene"
},
{
"created": "2025-06-11T15:45:19.464639+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2653",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: anks1b has been removed from the panel.",
"entity_name": "ANKS1B",
"entity_type": "gene"
},
{
"created": "2025-06-11T15:43:30.092408+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2653",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: ANKS1B.",
"entity_name": "ANKS1B",
"entity_type": "gene"
},
{
"created": "2025-06-11T13:52:09.587771+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2653",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37238449; Phenotypes: Charcot-Marie-Tooth disease MONDO:0015626; Mode of inheritance: None",
"entity_name": "PMP2",
"entity_type": "gene"
},
{
"created": "2025-06-11T13:36:11.524143+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2653",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: BMP6: Rating: AMBER; Mode of pathogenicity: None; Publications: 28335084, 29695288, 27590690, 34037557, 38719717; Phenotypes: iron overload, susceptibility to MONDO:0859316; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BMP6",
"entity_type": "gene"
},
{
"created": "2025-06-11T13:34:21.044880+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2653",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: NADK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: progressive encephalopathy with leukodystrophy due to DECR deficiency MONDO:0014464; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NADK2",
"entity_type": "gene"
},
{
"created": "2025-06-11T12:51:48.037158+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2653",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: A4GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: 12823750, 15142124, 10747952, 10993874, 11896312, 27612185; Phenotypes: A4GALT-congenital disorder of glycosylation MONDO:0100587; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "A4GALT",
"entity_type": "gene"
}
]
}