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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1124",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1122",
"results": [
{
"created": "2021-11-22T12:35:27.096221+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COLEC11 were set to ",
"entity_name": "COLEC11",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:35:13.274743+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COLEC11: Rating: GREEN; Mode of pathogenicity: None; Publications: 21258343, 26789649, 28301481; Phenotypes: 3MC syndrome 2, MIM# 265050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COLEC11",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:33:52.853658+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9779",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: MLC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11254442, 18757878, 16652334; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts (MIM#604004); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MLC1",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:32:10.653436+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL9A2 as ready",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:32:10.641784+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col9a2 has been classified as Green List (High Evidence).",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:32:06.784273+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL9A2 were changed from STICKLER SYNDROME, TYPE V; MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2 to Stickler syndrome, type V, MIM# 614284",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:31:54.508946+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL9A2 were set to ",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:31:40.012401+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL9A2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:31:27.802999+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL9A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21671392, 31090205, 33356723; Phenotypes: Stickler syndrome, type V, MIM# 614284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:29:01.167323+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL9A1 as ready",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:29:01.156453+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col9a1 has been classified as Green List (High Evidence).",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:28:24.751948+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL9A1 were changed from MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6; STICKLER SYNDROME TYPE 4 to Stickler syndrome, type IV, MIM# 614134",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:28:10.703356+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL9A1 were set to ",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:28:00.149169+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL9A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:27:47.843200+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL9A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16909383, 21421862, 31090205; Phenotypes: Stickler syndrome, type IV, MIM# 614134; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:27:38.931206+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9779",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: MBTPS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27380894, 19361614, 21426410; Phenotypes: Osteogenesis imperfecta, type XIX, (MIM301014), IFAP syndrome with or without BRESHECK syndrome (MIM#308205), Keratosis follicularis spinulosa decalvans, X-linked (MIM#308800), ?Olmsted syndrome, X-linked (MIM#300918); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:25:07.018495+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL6A3 as ready",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:25:06.999013+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col6a3 has been classified as Green List (High Evidence).",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:25:03.653336+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL6A3 were changed from DYSTONIA 27; ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 to Bethlem myopathy 1, MIM# 158810; Ullrich congenital muscular dystrophy 1, MIM# 254090",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:24:50.474370+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL6A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:24:37.702217+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL6A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy 1, MIM# 158810, Ullrich congenital muscular dystrophy 1, MIM# 254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:23:48.549547+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9779",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: MMP13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19615667, 24781753, 24648384; Phenotypes: Metaphyseal anadysplasia 1 (MIM#602111), Metaphyseal dysplasia, Spahr type (MIM#250400), ?Spondyloepimetaphyseal dysplasia, Missouri type (MIM#602111); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MMP13",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:22:52.531321+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.587",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "changed review comment from: At least 7 families described with either mono or biallelic variants reports. \r\nAutosomal dominant metaphyseal anadysplasia has been described as more severe, with dominant-negative missense mutations in the prodomain of MMP13 that determine autoactivation of MMP13 and intracellular degradation of both MMP13 and MMP9, resulting in a double enzymatic deficiency. Recessive metaphyseal anadysplasia has been described as a milder form, caused by biallelic loss of function of either MMP9 or MMP13.; to: At least 7 families described with either mono (Metaphyseal anadysplasia) or biallelic (Metaphyseal dysplasia, Spahr type) variants reports. \r\nAutosomal dominant metaphyseal anadysplasia has been described as more severe, with dominant-negative missense mutations in the prodomain of MMP13 that determine autoactivation of MMP13 and intracellular degradation of both MMP13 and MMP9, resulting in a double enzymatic deficiency. Recessive metaphyseal anadysplasia has been described as a milder form, caused by biallelic loss of function of either MMP9 or MMP13.",
"entity_name": "MMP13",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:22:14.022325+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL6A2 as ready",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:22:14.003073+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col6a2 has been classified as Green List (High Evidence).",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:22:10.466570+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL6A2 were changed from Ullrich congenital muscular dystrophy 1 254090; Bethlem myopathy 1 158810 to Bethlem myopathy 1, MIM# 158810; Ullrich congenital muscular dystrophy 1, MIM# 254090",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:21:53.177885+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL6A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy 1, MIM# 158810, Ullrich congenital muscular dystrophy 1, MIM# 254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:20:06.586570+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL6A1 as ready",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:20:06.575323+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col6a1 has been classified as Green List (High Evidence).",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:20:02.684912+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL6A1 were changed from COL6A1 associated myopathy to Bethlem myopathy 1, MIM# 158810; Ullrich congenital muscular dystrophy 1, MIM# 254090",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:19:44.888564+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL6A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:19:30.437663+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy 1, MIM# 158810, Ullrich congenital muscular dystrophy 1, MIM# 254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:19:02.540232+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.584",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: MMP13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19615667, 24781753, 24648384; Phenotypes: Metaphyseal anadysplasia 1 (MIM#602111), Metaphyseal dysplasia, Spahr type (MIM#250400), ?Spondyloepimetaphyseal dysplasia, Missouri type (MIM#602111); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MMP13",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:17:33.225704+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLCN7 as ready",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:17:33.212308+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn7 has been classified as Green List (High Evidence).",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:17:29.692653+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLCN7 were changed from Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541; Osteopetrosis, autosomal recessive 4, OMIM:611490; Osteopetrosis, autosomal dominant 2, OMIM:166600; CLCN7-RELATED OSTEOPETROSIS to Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541; Osteopetrosis, autosomal recessive 4, MIM# 611490",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:17:13.795172+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLCN7 were set to ",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:04:21.203181+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9779",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: IHH: Rating: GREEN; Mode of pathogenicity: None; Publications: 34530144, 12632327, 32311039, 29155992; Phenotypes: Acrocapitofemoral dysplasia MIM#607778, Brachydactyly, type A1 MIM#112500; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "IHH",
"entity_type": "gene"
},
{
"created": "2021-11-22T12:02:09.078949+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.582",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: DVL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25817014, 25817016; Phenotypes: Robinow syndrome, autosomal dominant 2 (MIM#616331); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed); Current diagnostic: yes",
"entity_name": "DVL1",
"entity_type": "gene"
},
{
"created": "2021-11-22T11:55:13.538999+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.582",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: KRIT1: Rating: RED; Mode of pathogenicity: None; Publications: 34556564, 20301470; Phenotypes: Cavernous malformations of CNS and retina MIM#116860, Cerebral cavernous malformations-1 MIM#116860, Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations MIM#116860; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2021-11-22T11:35:03.226509+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.582",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29300242, 25724378, 28265383; Phenotypes: Blood group--Lutheran inhibitor MIM#111150, Dyserythropoietic anemia, congenital, type IV MIM#613673; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2021-11-22T11:29:35.231154+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.582",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: KIF22: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25256152, 22152677, 22152678; Phenotypes: Spondyloepimetaphyseal dysplasia with joint laxity, type 2 MIM#603546; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "KIF22",
"entity_type": "gene"
},
{
"created": "2021-11-22T11:27:04.080868+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.582",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: MMADHC: Rating: RED; Mode of pathogenicity: None; Publications: 18385497; Phenotypes: Methylmalonic aciduria, cblD type, variant 2 (MIM#277410), Methylmalonic aciduria and homocystinuria, cblD type (MIM#277410), Methylmalonic aciduria, cblD type, variant 2 (MIM#277410); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2021-11-22T11:25:03.323325+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.582",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: KIAA1109: Changed rating: GREEN",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2021-11-22T11:24:55.966252+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9779",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: KIAA1109: Rating: GREEN; Mode of pathogenicity: None; Publications: 29290337, 30906834; Phenotypes: Alkuraya-Kucinskas syndrome MIM#617822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2021-11-22T11:24:51.985957+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.582",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: KIAA1109: Rating: ; Mode of pathogenicity: None; Publications: 29290337, 30906834; Phenotypes: Alkuraya-Kucinskas syndrome MIM#617822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2021-11-22T11:11:03.814025+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9779",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: KCTD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23541344, 31324836; Phenotypes: Scalp-ear-nipple syndrome MIM#181270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "KCTD1",
"entity_type": "gene"
},
{
"created": "2021-11-22T11:10:27.896776+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.582",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: KCTD1: Rating: RED; Mode of pathogenicity: None; Publications: 23541344, 31324836; Phenotypes: Scalp-ear-nipple syndrome MIM#181270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "KCTD1",
"entity_type": "gene"
},
{
"created": "2021-11-22T10:53:32.600313+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9779",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "commented on gene: KCNJ2: well-established association, including short QT, long QT, clefting disorders, myopathy adult onset, channelopathies. tenuous association for CPVT\r\n\r\nDominant-negative is the disease mechanism",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2021-11-22T10:53:31.631779+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9779",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Andersen syndrome MIM#170390, Atrial fibrillation, familial, 9 MIM#613980, Short QT syndrome 3 MIM#609622; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2021-11-22T10:52:50.407830+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.582",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20631720, 16311595; Phenotypes: Methylmalonic aciduria and homocystinuria, cblC type, (MIM#277400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2021-11-22T10:48:27.921824+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.582",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20301441; Phenotypes: Andersen syndrome MIM#170390, Atrial fibrillation, familial, 9 MIM#613980, Short QT syndrome 3 MIM#609622; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2021-11-22T10:34:39.361697+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.582",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: MLC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11254442, 18757878, 16652334; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts (MIM#604004); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MLC1",
"entity_type": "gene"
},
{
"created": "2021-11-22T10:25:39.649148+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9779",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: MID1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1103076, 9354791; Phenotypes: Opitz GBBB syndrome, type I (MIM#300000); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "MID1",
"entity_type": "gene"
},
{
"created": "2021-11-22T10:24:03.523297+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.582",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: MID1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1103076, 9354791; Phenotypes: Opitz GBBB syndrome, type I (MIM#300000); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "MID1",
"entity_type": "gene"
},
{
"created": "2021-11-22T10:16:11.154236+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.582",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: KAT6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 22715153; Phenotypes: SBBYSS syndrome MIM#603736, Genitopatellar syndrome MIM#606170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2021-11-22T10:11:11.274831+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.582",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: KAT6A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30245513; Phenotypes: Arboleda-Tham syndrome MIM#616268; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2021-11-22T10:11:08.548396+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9779",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: KAT6A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30245513; Phenotypes: Arboleda-Tham syndrome MIM#616268; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2021-11-22T10:09:13.259427+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9779",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: MESP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18485326; Phenotypes: Spondylocostal dysostosis 2, autosomal recessive (MIM#608681); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MESP2",
"entity_type": "gene"
},
{
"created": "2021-11-22T10:04:50.269949+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.582",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: MESP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18485326; Phenotypes: Spondylocostal dysostosis 2, autosomal recessive (MIM#608681); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MESP2",
"entity_type": "gene"
},
{
"created": "2021-11-22T09:56:37.843399+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9779",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ZNF365: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ZNF365",
"entity_type": "gene"
},
{
"created": "2021-11-22T09:42:12.548197+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.582",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "changed review comment from: At least 4 families reported with early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Two animal models.\r\n\r\n1 patient reported to have a cleft palate and 3 with high-arched palates.; to: At least 4 families reported with early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Two animal models.\r\n\r\n1/7 patients had a cleft palate and 3/7 with a high-arched palates.",
"entity_name": "MEGF10",
"entity_type": "gene"
},
{
"created": "2021-11-22T09:37:42.634993+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.582",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: MEGF10: Rating: AMBER; Mode of pathogenicity: None; Publications: 22101682, 22371254, 30802937; Phenotypes: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset (MIM#614399), Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant (MIM#614399); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MEGF10",
"entity_type": "gene"
},
{
"created": "2021-11-22T08:55:40.626521+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.582",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: MBTPS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27380894, 19361614, 21426410; Phenotypes: Osteogenesis imperfecta, type XIX, (MIM301014), IFAP syndrome with or without BRESHECK syndrome (MIM#308205), Keratosis follicularis spinulosa decalvans, X-linked (MIM#308800), ?Olmsted syndrome, X-linked (MIM#300918); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2021-11-20T15:30:27.844954+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL4A3BP as Amber List (moderate evidence)",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2021-11-20T15:30:27.834661+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a3bp has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2021-11-20T15:30:16.666674+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL4A3BP: Rating: AMBER; Mode of pathogenicity: None; Publications: 25533962; Phenotypes: Mental retardation, autosomal dominant 34, MIM# 616351; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A3BP",
"entity_type": "gene"
},
{
"created": "2021-11-20T15:26:34.039237+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A2 as ready",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2021-11-20T15:26:34.026932+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a2 has been classified as Green List (High Evidence).",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2021-11-20T15:26:30.253165+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A2 were changed from PORENCEPHALY 2 to Brain small vessel disease 2, MIM# 614483; Porencephaly",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2021-11-20T15:26:08.169481+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL4A2 were set to 32732225",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2021-11-20T15:25:52.463698+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL4A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2021-11-20T15:25:39.344551+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL4A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22209246; Phenotypes: Brain small vessel disease 2, MIM# 614483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2021-11-20T15:22:55.543345+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Microphthalmia reported.; to: Microphthalmia, porencephaly reported.",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2021-11-20T15:22:45.340404+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COL4A1: Changed phenotypes: Brain small vessel disease with or without ocular anomalies, MIM#175780, Porencephaly",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2021-11-20T15:22:33.397197+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A1 as ready",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2021-11-20T15:22:33.388209+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a1 has been classified as Green List (High Evidence).",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2021-11-20T15:22:28.306876+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A1 were changed from PORENCEPHALY 1 to Brain small vessel disease with or without ocular anomalies, MIM#175780; Porenecphaly",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2021-11-20T15:22:09.539506+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL4A1 were set to 30266093; 32732225; 30712878",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2021-11-20T15:21:34.910549+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL4A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2021-11-19T13:59:06.742627+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL3A1 as ready",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2021-11-19T13:59:06.731051+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col3a1 has been classified as Green List (High Evidence).",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2021-11-19T13:59:01.800957+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL3A1 were changed from HP:0006496; HP:0002126; HP:0001883 to Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343; Ehlers-Danlos syndrome, vascular type, MIM# 130050",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2021-11-19T13:58:48.632886+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL3A1 were set to 28742248; 24922459; PMID: 28258187; 27168972; 25205403",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2021-11-19T13:58:24.018858+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established phenotype with polymicrogyria with biallelic variants in COL3A1, at least 6 individuals from 5 unrelated families are described.\r\n\r\nClubfoot is a feature of EDS vascular type.; to: Well established phenotype with polymicrogyria with biallelic variants in COL3A1, at least 6 individuals from 5 unrelated families are described.\r\n\r\nTalipes is a feature of EDS vascular type.",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2021-11-19T13:58:15.605620+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28742248, 19455184, 25205403; Phenotypes: Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343, Ehlers-Danlos syndrome, vascular type, MIM# 130050; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2021-11-19T13:50:43.286388+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL2A1 as ready",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2021-11-19T13:50:43.274689+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col2a1 has been classified as Green List (High Evidence).",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2021-11-19T13:49:47.905675+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL2A1 were changed from KNIEST DYSPLASIA; SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE; PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE; STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR; RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT; SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; ACHONDROGENESIS TYPE 2; SPONDYLOPERIPHERAL DYSPLASIA to Collagenopathy type 2 alpha 1, MONDO:0022800",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2021-11-19T13:49:27.706843+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Collagenopathy type 2 alpha 1, MONDO:0022800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2021-11-19T13:45:51.013775+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL1A2 as ready",
"entity_name": "COL1A2",
"entity_type": "gene"
},
{
"created": "2021-11-19T13:45:50.996583+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col1a2 has been classified as Green List (High Evidence).",
"entity_name": "COL1A2",
"entity_type": "gene"
},
{
"created": "2021-11-19T13:45:47.005446+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL1A2 were changed from Osteogenesis imperfecta; Ehlers-Danlos syndrome to Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120; Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821; Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320; Osteogenesis imperfecta, type II, MIM# 166210; Osteogenesis imperfecta, type III, MIM# 259420; Osteogenesis imperfecta, type IV, MIM# 166220",
"entity_name": "COL1A2",
"entity_type": "gene"
},
{
"created": "2021-11-19T13:45:28.907957+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COL1A2: Added comment: Well established gene-disease associations, likely representing a spectrum. The more severe phenotypes can present antenatally particularly with skeletal features.; Changed rating: GREEN; Changed phenotypes: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120, Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821, Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320, Osteogenesis imperfecta, type II, MIM# 166210, Osteogenesis imperfecta, type III, MIM# 259420, Osteogenesis imperfecta, type IV, MIM# 166220",
"entity_name": "COL1A2",
"entity_type": "gene"
},
{
"created": "2021-11-19T13:41:19.181986+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "COL1A2",
"entity_type": "gene"
},
{
"created": "2021-11-19T13:39:46.340840+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL1A1 as ready",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2021-11-19T13:39:46.330304+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col1a1 has been classified as Green List (High Evidence).",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2021-11-19T13:39:37.418966+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL1A1 were changed from OSTEOGENESIS IMPERFECTA TYPE III; CAFFEY DISEASE; OSTEOGENESIS IMPERFECTA TYPE I; OSTEOGENESIS IMPERFECTA TYPE IIA; EHLERS-DANLOS SYNDROME TYPE VIIA; COL1A1/2-RELATED OSTEOGENESIS IMPERFECTA; EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COL1A1-RELATED to Caffey disease, MIM#114000; Ehlers-Danlos syndrome, arthrochalasia type, 1, MIM#130060; Osteogenesis imperfecta, type I, MIM#166200; Osteogenesis imperfecta, type II, MIM#166210; Osteogenesis imperfecta, type III, MIM#259420; Osteogenesis imperfecta, type IV, MIM#166220",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2021-11-19T13:39:21.651803+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL1A1 were set to ",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2021-11-19T13:34:08.744981+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL18A1 as ready",
"entity_name": "COL18A1",
"entity_type": "gene"
}
]
}