HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220650,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=117",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=115",
"results": [
{
"created": "2025-11-25T13:13:37.464416+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.282",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SEC31A from panel Arthrogryposis",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-25T13:13:37.119337+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEC31A was added\ngene: SEC31A was added to Genetic Epilepsy. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: SEC31A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SEC31A were set to 30464055; 40508110\nPhenotypes for gene: SEC31A were set to Halperin-Birk syndrome, MIM# \t618651",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2025-11-25T13:12:17.117475+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEC31A as ready",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2025-11-25T13:12:17.110298+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec31a has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2025-11-25T13:12:09.906791+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEC31A as Amber List (moderate evidence)",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2025-11-25T13:12:09.897497+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec31a has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2025-11-25T13:11:43.708359+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEC31A was added\ngene: SEC31A was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: SEC31A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SEC31A were set to 30464055; 40508110\nPhenotypes for gene: SEC31A were set to Halperin-Birk syndrome, MIM# \t618651\nReview for gene: SEC31A was set to AMBER\nAdded comment: PMID 30464055 reports 2 individuals from 1 family with a homozygous frameshift duplication in SEC31A, and PMID 40508110 reports 1 individual from an unrelated family with a homozygous missense (p.Cys453Trp) variant; all present with severe congenital arthrogryposis, spastic quadriplegia, profound developmental delay, epilepsy, microcephaly and brain malformations. \nSources: Literature",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2025-11-25T13:07:51.272435+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSAT1 as ready",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2025-11-25T13:07:51.264270+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psat1 has been classified as Green List (High Evidence).",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2025-11-25T13:07:46.085192+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PSAT1 as Green List (high evidence)",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2025-11-25T13:07:46.075174+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psat1 has been classified as Green List (High Evidence).",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2025-11-25T13:07:03.066849+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.669",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSAT1 was added\ngene: PSAT1 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSAT1 were set to 38278647\nPhenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2, MIM#\t616038\nReview for gene: PSAT1 was set to GREEN\nAdded comment: Contractures are part of the phenotype at the severe end of the spectrum for this enzyme deficiency. \nSources: Literature",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2025-11-25T13:04:57.736734+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRUNE1 as ready",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2025-11-25T13:04:57.709231+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prune1 has been classified as Green List (High Evidence).",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2025-11-25T13:04:54.675520+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRUNE1 as Green List (high evidence)",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2025-11-25T13:04:54.660567+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prune1 has been classified as Green List (High Evidence).",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2025-11-25T13:04:24.596087+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRUNE1 was added\ngene: PRUNE1 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRUNE1 were set to 28334956\nPhenotypes for gene: PRUNE1 were set to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, MIM#617481\nReview for gene: PRUNE1 was set to GREEN\nAdded comment: Progressive joint contractures are a feature. \nSources: Literature",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2025-11-25T13:01:11.872493+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGS as ready",
"entity_name": "PIGS",
"entity_type": "gene"
},
{
"created": "2025-11-25T13:01:11.864412+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigs has been classified as Green List (High Evidence).",
"entity_name": "PIGS",
"entity_type": "gene"
},
{
"created": "2025-11-25T13:01:07.977409+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIGS as Green List (high evidence)",
"entity_name": "PIGS",
"entity_type": "gene"
},
{
"created": "2025-11-25T13:01:07.958048+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigs has been classified as Green List (High Evidence).",
"entity_name": "PIGS",
"entity_type": "gene"
},
{
"created": "2025-11-25T13:00:37.933856+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGS was added\ngene: PIGS was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIGS were set to 30269814\nPhenotypes for gene: PIGS were set to Glycosylphosphatidylinositol biosynthesis defect 18, MIM# 618143\nReview for gene: PIGS was set to GREEN\nAdded comment: Established gene-disease association. Can present with a spectrum of severity, including fetal akinesia with contractures. \nSources: Literature",
"entity_name": "PIGS",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:58:17.929868+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHGDH as ready",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:58:17.918702+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phgdh has been classified as Green List (High Evidence).",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:58:14.242672+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PHGDH as Green List (high evidence)",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:58:14.229587+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phgdh has been classified as Green List (High Evidence).",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:57:42.400507+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHGDH was added\ngene: PHGDH was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PHGDH were set to 25913727\nPhenotypes for gene: PHGDH were set to Neu-Laxova syndrome 1, MIM#\t256520\nReview for gene: PHGDH was set to GREEN\nAdded comment: Joint contractures are a feature at the severe end of the spectrum of this enzyme deficiency. \nSources: Literature",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:51:20.653415+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NKAP as ready",
"entity_name": "NKAP",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:51:20.645994+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nkap has been classified as Green List (High Evidence).",
"entity_name": "NKAP",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:51:15.069758+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NKAP as Green List (high evidence)",
"entity_name": "NKAP",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:51:15.056106+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nkap has been classified as Green List (High Evidence).",
"entity_name": "NKAP",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:50:46.743389+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NKAP was added\ngene: NKAP was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: NKAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: NKAP were set to 31587868\nPhenotypes for gene: NKAP were set to Intellectual developmental disorder, X-linked syndromic, Hackman-Di Donato type, MIM#\t301039\nReview for gene: NKAP was set to GREEN\nAdded comment: PMID 31587868 reports 10 individuals from 8 unrelated families with X-linked recessive missense NKAP variants presenting with developmental delay/intellectual disability, hypotonia, joint contractures, Marfanoid habitus, scoliosis, tall stature and behavioral abnormalities. The NKAP variants are clustered in the C-terminal region where NKAP interacts with HDAC3 and post-catalytic spliceosomal complex proteins. Consistent with a role for the C-terminal region of NKAP in embryogenesis, nkap mutant zebrafish with a C-terminally truncated NKAP demonstrate severe developmental defects. \nSources: Literature",
"entity_name": "NKAP",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:47:01.089568+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYO18B as ready",
"entity_name": "MYO18B",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:47:01.078486+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myo18b has been classified as Green List (High Evidence).",
"entity_name": "MYO18B",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:46:57.593683+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYO18B as Green List (high evidence)",
"entity_name": "MYO18B",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:46:57.585993+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myo18b has been classified as Green List (High Evidence).",
"entity_name": "MYO18B",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:46:33.445003+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYO18B was added\ngene: MYO18B was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: MYO18B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYO18B were set to 33179433\nPhenotypes for gene: MYO18B were set to Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, MIM#\t616549\nReview for gene: MYO18B was set to GREEN\nAdded comment: Established gene-disease association, distal arthrogryposis is a feature. \nSources: Literature",
"entity_name": "MYO18B",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:43:17.867822+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MADD as ready",
"entity_name": "MADD",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:43:17.857581+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: madd has been classified as Green List (High Evidence).",
"entity_name": "MADD",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:43:13.938719+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MADD as Green List (high evidence)",
"entity_name": "MADD",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:43:13.928813+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: madd has been classified as Green List (High Evidence).",
"entity_name": "MADD",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:42:48.592947+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MADD was added\ngene: MADD was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: MADD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MADD were set to 33723354\nPhenotypes for gene: MADD were set to DEEAH syndrome, MIM#\t619004\nReview for gene: MADD was set to GREEN\nAdded comment: Distal arthrogryposis is a feature of this syndrome. \nSources: Literature",
"entity_name": "MADD",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:38:09.718595+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGHMBP2 as ready",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:38:09.707177+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ighmbp2 has been classified as Green List (High Evidence).",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:38:05.576777+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IGHMBP2 as Green List (high evidence)",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:38:05.566804+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ighmbp2 has been classified as Green List (High Evidence).",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:37:39.850435+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGHMBP2 was added\ngene: IGHMBP2 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IGHMBP2 were set to 10521314; 27570397\nPhenotypes for gene: IGHMBP2 were set to Neuronopathy, distal hereditary motor, autosomal recessive 1, MIM#\t604320\nReview for gene: IGHMBP2 was set to GREEN\nAdded comment: Established gene-disease association, contractures are part of the phenotype. \nSources: Literature",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:34:26.021688+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GAD1 as ready",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:34:26.014306+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gad1 has been classified as Green List (High Evidence).",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:34:00.052400+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GAD1 as Green List (high evidence)",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:34:00.039877+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gad1 has been classified as Green List (High Evidence).",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:33:31.828013+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GAD1 was added\ngene: GAD1 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: GAD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GAD1 were set to 32282878\nPhenotypes for gene: GAD1 were set to Developmental and epileptic encephalopathy 89, MIM#\t619124\nReview for gene: GAD1 was set to GREEN\nAdded comment: Eight of the 11 affected individuals reported in the gene discovery paper had joint contractures. \nSources: Literature",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:24:52.539270+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC2 as ready",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:24:52.528432+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc2 has been classified as Green List (High Evidence).",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:24:47.600002+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERCC2 as Green List (high evidence)",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:24:47.589493+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc2 has been classified as Green List (High Evidence).",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:24:22.975188+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERCC2 was added\ngene: ERCC2 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC2 were set to 33369099; 32557569; 25716912\nPhenotypes for gene: ERCC2 were set to Cerebrooculofacioskeletal syndrome 2, MIM#\t610756\nReview for gene: ERCC2 was set to GREEN\nAdded comment: DNA repair disorder. At the severe end of the spectrums associated with COFS, contractures are part of the phenotype. \nSources: Literature",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:21:16.114081+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EMD as ready",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:21:16.102206+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emd has been classified as Green List (High Evidence).",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:21:10.841579+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EMD as Green List (high evidence)",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:21:10.830893+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emd has been classified as Green List (High Evidence).",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:20:41.514538+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EMD was added\ngene: EMD was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: EMD were set to 26247046; 34026875; 35175440; 36031908; 37257496\nPhenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked, MIM#310300\nReview for gene: EMD was set to GREEN\nAdded comment: Established gene-disease association, joint contractures are part of the phenotype. \nSources: Literature",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:17:54.057917+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DSE as ready",
"entity_name": "DSE",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:17:54.047254+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dse has been classified as Green List (High Evidence).",
"entity_name": "DSE",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:17:48.531970+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DSE as Green List (high evidence)",
"entity_name": "DSE",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:17:48.524413+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dse has been classified as Green List (High Evidence).",
"entity_name": "DSE",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:17:18.806993+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DSE was added\ngene: DSE was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: DSE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DSE were set to 25703627; 32130795; 35842784; 36902515\nPhenotypes for gene: DSE were set to Ehlers-Danlos syndrome, musculocontractural type 2, MIM#\t615539\nReview for gene: DSE was set to GREEN\nAdded comment: Established gene-disease association, contractures are key part of the phenotype. \nSources: Literature",
"entity_name": "DSE",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:11:06.811468+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COG6 as ready",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:11:06.801233+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog6 has been classified as Green List (High Evidence).",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:11:02.364234+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COG6 as Green List (high evidence)",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:11:02.356229+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog6 has been classified as Green List (High Evidence).",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:10:40.515073+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.645",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COG6 was added\ngene: COG6 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: COG6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COG6 were set to 32905044; 35048409; 35068072; 38278647; 40213872\nPhenotypes for gene: COG6 were set to Congenital disorder of glycosylation, type IIl\t614576\nReview for gene: COG6 was set to GREEN\nAdded comment: Established gene-disease association, multiple reports of arthrogryposis. \nSources: Literature",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:06:05.207758+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRAT1 as ready",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:06:05.200294+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brat1 has been classified as Green List (High Evidence).",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:05:55.479947+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BRAT1 as Green List (high evidence)",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:05:55.466429+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brat1 has been classified as Green List (High Evidence).",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:05:31.717715+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRAT1 was added\ngene: BRAT1 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BRAT1 were set to 36599696\nPhenotypes for gene: BRAT1 were set to Rigidity and multifocal seizure syndrome, lethal neonatal, MIM#\t614498\nReview for gene: BRAT1 was set to GREEN\nAdded comment: PMID 36599696 reviews a cohort of 19 neonates with this condition, 7/19 (37%) had arthrogryposis at birth. \nSources: Literature",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:02:01.402916+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B3GAT3 as ready",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:02:01.394449+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b3gat3 has been classified as Green List (High Evidence).",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:01:57.007701+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: B3GAT3 as Green List (high evidence)",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:01:56.996917+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b3gat3 has been classified as Green List (High Evidence).",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2025-11-25T12:01:27.565410+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: B3GAT3 was added\ngene: B3GAT3 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B3GAT3 were set to 35151321; 31196143; 26086840\nPhenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects -MIM#245600\nReview for gene: B3GAT3 was set to GREEN\nAdded comment: Established gene-disease association. Joint contractures as well as dislocations are part of the phenotype. \nSources: Literature",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:57:33.088683+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATN1 as ready",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:57:33.080789+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atn1 has been classified as Green List (High Evidence).",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:57:28.091789+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATN1 as Green List (high evidence)",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:57:28.080467+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atn1 has been classified as Green List (High Evidence).",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:56:51.829718+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATN1 was added\ngene: ATN1 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATN1 were set to 34212383\nPhenotypes for gene: ATN1 were set to Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM#\t618494\nReview for gene: ATN1 was set to GREEN\nAdded comment: Nine individuals reported with de novo missense or in-frame deletions/duplications within the \"HX motif\" of exon 7 of ATN1 and presenting with 'congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA)' syndrome, distinct from dentatorubral-pallidoluysian atrophy (DRPLA) secondary to expansion variants in exon 5 of ATN1.\r\n\r\nArthrogryposis is a feature. \nSources: Literature",
"entity_name": "ATN1",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:52:09.785485+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASAH1 as ready",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:52:09.774767+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asah1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:52:06.168103+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASAH1 as Amber List (moderate evidence)",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:52:06.159985+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asah1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:51:37.522297+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASAH1 was added\ngene: ASAH1 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASAH1 were set to 31022067\nPhenotypes for gene: ASAH1 were set to Farber lipogranulomatosis, MIM#\t228000\nReview for gene: ASAH1 was set to AMBER\nAdded comment: Progressive joint contractures can be part of the phenotype. \nSources: Literature",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:49:01.710366+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG14 as ready",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:49:01.699762+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg14 has been classified as Green List (High Evidence).",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:48:57.818650+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALG14 as Green List (high evidence)",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:48:57.808321+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg14 has been classified as Green List (High Evidence).",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:48:32.461902+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG14 was added\ngene: ALG14 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALG14 were set to 28733338; 34971077\nPhenotypes for gene: ALG14 were set to ALG14-congenital disorder of glycosylation, MONDO:0100559\nReview for gene: ALG14 was set to GREEN\nAdded comment: Variants in this gene cause a range of phenotypes consistent with a CDG, but at least 4 unrelated families reported with multiple contractures. \nSources: Literature",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:45:00.710353+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTB as ready",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:45:00.701792+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actb has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2025-11-25T11:44:55.906076+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACTB as Amber List (moderate evidence)",
"entity_name": "ACTB",
"entity_type": "gene"
}
]
}