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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1790",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1788",
"results": [
{
"created": "2020-05-25T09:47:28.810251+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: arl3 has been classified as Green List (High Evidence).",
"entity_name": "ARL3",
"entity_type": "gene"
},
{
"created": "2020-05-25T09:46:55.416792+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ARL3 as Green List (high evidence)",
"entity_name": "ARL3",
"entity_type": "gene"
},
{
"created": "2020-05-25T09:46:55.405363+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: arl3 has been classified as Green List (High Evidence).",
"entity_name": "ARL3",
"entity_type": "gene"
},
{
"created": "2020-05-25T09:46:46.436620+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ARL3 was added\ngene: ARL3 was added to Syndromic Retinopathy. Sources: Expert list\nMode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARL3 were set to 30269812; 16565502\nPhenotypes for gene: ARL3 were set to Joubert syndrome 35 MIM#618161\nReview for gene: ARL3 was set to GREEN\nAdded comment: 4 patients from 2 unrelated consanguineous families with a phenotype resembling Joubert syndrome with homozygous missense mutations affecting the same residue (R149C, R149H), and supporting in vitro functional assays. All reported cases had rod-cone dystrophy. An Arl3 null mouse model has a ciliary disease phenotype affecting the kidney, biliary tract, pancreas, and retina. \nSources: Expert list",
"entity_name": "ARL3",
"entity_type": "gene"
},
{
"created": "2020-05-25T09:38:10.512903+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:ARL3 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-05-25T09:23:20.721774+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: AHI1 were changed from Joubert syndrome 17 to nonsyndromic retinitis pigmentosa; Joubert syndrome 17",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2020-05-25T09:22:50.848150+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.39",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: AHI1 were set to ",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2020-05-25T09:20:22.331400+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ABHD12 were changed from Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857 to nonsyndromic retinitis pigmentosa; Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2020-05-25T09:19:16.667456+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ABHD12 were set to ",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2020-05-25T09:07:09.483401+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DTHD1 was added\ngene: DTHD1 was added to Syndromic Retinopathy. Sources: Expert list\nMode of inheritance for gene: DTHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DTHD1 were set to 23105016\nPhenotypes for gene: DTHD1 were set to Leber congenital amaurosis with muscle dystrophy\nReview for gene: DTHD1 was set to RED\nAdded comment: Single family reported with homozygous initiation codon variant. Reduced protein expression demonstrated by Western blot. \nSources: Expert list",
"entity_name": "DTHD1",
"entity_type": "gene"
},
{
"created": "2020-05-25T08:53:40.695700+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CTC1 as ready",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2020-05-25T08:53:40.686326+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ctc1 has been classified as Green List (High Evidence).",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2020-05-25T08:53:35.935957+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CTC1 as Green List (high evidence)",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2020-05-25T08:53:35.924627+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ctc1 has been classified as Green List (High Evidence).",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2020-05-25T08:52:21.255021+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CTC1 was added\ngene: CTC1 was added to Syndromic Retinopathy. Sources: Expert list\nMode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTC1 were set to 22267198\nPhenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts MIM#612199\nReview for gene: CTC1 was set to GREEN\nAdded comment: Retinopathy is a feature of the condition. At least 10 families reported. \nSources: Expert list",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:36:34.824058+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EVC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome (MIM#225500); Mode of inheritance: None",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:36:19.455610+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EVC2 as ready",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:36:19.443978+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: evc2 has been classified as Green List (High Evidence).",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:36:16.508587+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EVC2 were changed from to Ellis-van Creveld syndrome (MIM#225500)",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:35:53.382641+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EVC2 were set to ",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:35:22.295847+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EVC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:34:30.791231+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ICK as ready",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:34:30.776728+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ick has been classified as Green List (High Evidence).",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:34:28.142757+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ICK were changed from to Endocrine-cerebroosteodysplasia (MIM#612651)",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:33:35.123309+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ICK were set to ",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:33:12.880744+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ICK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:32:34.336553+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy to Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-05-24T21:26:58.306342+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3C2A as ready",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:26:58.296930+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3c2a has been classified as Green List (High Evidence).",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:26:54.538397+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIK3C2A as Green List (high evidence)",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:26:54.526550+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3c2a has been classified as Green List (High Evidence).",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:26:26.892399+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIK3C2A was added\ngene: PIK3C2A was added to Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy. Sources: Expert list\nMode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIK3C2A were set to 31034465\nPhenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome, MIM# 618440\nReview for gene: PIK3C2A was set to GREEN\nAdded comment: Ciliary dysfunction associated with prominent skeletal abnormalities in three unrelated families. \nSources: Expert list",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:23:09.381636+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OFD1 as ready",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:23:09.368037+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ofd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:23:06.602860+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OFD1 were changed from to Orofaciodigital syndrome I, MIM# 311200",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:22:36.046155+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OFD1 was changed from Unknown to Other",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:22:09.527642+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OFD1 as Amber List (moderate evidence)",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:22:09.519125+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ofd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:21:40.971518+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome I, MIM# 311200; Mode of inheritance: Other",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:19:58.301581+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LBR as ready",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:19:58.292403+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lbr has been classified as Green List (High Evidence).",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:19:52.260992+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LBR as Green List (high evidence)",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:19:52.251765+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lbr has been classified as Green List (High Evidence).",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:19:18.572555+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LBR was added\ngene: LBR was added to Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy. Sources: Expert list\nMode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LBR were set to 29068549\nPhenotypes for gene: LBR were set to Greenberg skeletal dysplasia, MIM#215140\nReview for gene: LBR was set to GREEN\nAdded comment: Overlap with ATD in particular. \nSources: Expert list",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:16:05.482524+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF7 as ready",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:16:05.471440+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:15:58.259685+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF7 were changed from to Acrocallosal syndrome, MIM# 200990; Joubert syndrome 12, MIM# 200990",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:15:35.465849+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:15:12.460820+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIF7 as Amber List (moderate evidence)",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:15:12.448555+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:14:42.638891+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrocallosal syndrome, MIM# 200990, Joubert syndrome 12, MIM# 200990; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:11:59.302344+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIAA0753 as ready",
"entity_name": "KIAA0753",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:11:59.293371+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa0753 has been classified as Green List (High Evidence).",
"entity_name": "KIAA0753",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:11:54.516301+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIAA0753 as Green List (high evidence)",
"entity_name": "KIAA0753",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:11:54.506939+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa0753 has been classified as Green List (High Evidence).",
"entity_name": "KIAA0753",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:11:25.743382+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIAA0753 was added\ngene: KIAA0753 was added to Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy. Sources: Expert list\nMode of inheritance for gene: KIAA0753 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA0753 were set to 29138412\nPhenotypes for gene: KIAA0753 were set to Short-rib skeletal dysplasia\nReview for gene: KIAA0753 was set to GREEN\nAdded comment: Four individuals from three unrelated families reported with a predominantly skeletal ciliopathy phenotype. \nSources: Expert list",
"entity_name": "KIAA0753",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:08:26.302502+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIAA0586 as ready",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:08:26.290961+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa0586 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:08:23.656022+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA0586 were changed from to Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:07:58.334657+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIAA0586 were set to ",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:04:51.924324+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIAA0586 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:03:32.528500+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIAA0586 as Amber List (moderate evidence)",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:03:32.514418+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa0586 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:03:03.137473+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIAA0586: Rating: AMBER; Mode of pathogenicity: None; Publications: 26166481; Phenotypes: Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:00:08.591768+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HYLS1 as ready",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2020-05-24T21:00:08.577841+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hyls1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:59:57.257351+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HYLS1 were changed from to Hydrolethalus syndrome, MIM# 236680",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:59:25.763502+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HYLS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:58:57.283505+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HYLS1 as Amber List (moderate evidence)",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:58:57.272754+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hyls1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:58:26.458953+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrolethalus syndrome, MIM# 236680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:56:31.821005+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLI3 as ready",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:56:31.811900+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gli3 has been classified as Green List (High Evidence).",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:55:58.513175+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLI3 as Green List (high evidence)",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:55:58.499647+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gli3 has been classified as Green List (High Evidence).",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:55:29.176972+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLI3 was added\ngene: GLI3 was added to Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy. Sources: Expert list\nMode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GLI3 were set to Greig cephalopolysyndactyly syndrome, MIM#\t175700; Polydactyly\nReview for gene: GLI3 was set to GREEN\nAdded comment: Not a ciliopathy, but relatively common condition with phenotypic overlap. \nSources: Expert list",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:53:14.248273+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHCR7 as ready",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:53:14.238907+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhcr7 has been classified as Green List (High Evidence).",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:53:10.382249+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHCR7 as Green List (high evidence)",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:53:10.369886+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhcr7 has been classified as Green List (High Evidence).",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:52:41.770243+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHCR7 was added\ngene: DHCR7 was added to Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy. Sources: Expert list\nMode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, MIM#\t270400\nReview for gene: DHCR7 was set to GREEN\nAdded comment: Not a ciliopathy, but relatively common condition with phenotypic overlap. \nSources: Expert list",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:51:05.333300+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSPP1 as ready",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:51:05.320754+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cspp1 has been classified as Green List (High Evidence).",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:51:02.711405+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSPP1 were changed from to Joubert syndrome 21, MIM# 615636",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:50:31.980352+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CSPP1 were set to ",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:49:45.968039+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CSPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:49:16.556929+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy",
"panel_id": 179,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808; Phenotypes: Joubert syndrome 21, MIM# 615636; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:41:02.358784+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RARA as ready",
"entity_name": "RARA",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:41:02.344917+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rara has been classified as Red List (Low Evidence).",
"entity_name": "RARA",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:40:40.855888+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RARA as Red List (low evidence)",
"entity_name": "RARA",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:40:40.843816+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rara has been classified as Red List (Low Evidence).",
"entity_name": "RARA",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:40:15.007019+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RARA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "RARA",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:38:42.695604+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERBB2 as ready",
"entity_name": "ERBB2",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:38:42.686818+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: erbb2 has been classified as Red List (Low Evidence).",
"entity_name": "ERBB2",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:38:38.884492+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERBB2 as Red List (low evidence)",
"entity_name": "ERBB2",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:38:38.874710+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: erbb2 has been classified as Red List (Low Evidence).",
"entity_name": "ERBB2",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:38:27.514533+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERBB2 as Red List (low evidence)",
"entity_name": "ERBB2",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:38:27.501103+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: erbb2 has been classified as Red List (Low Evidence).",
"entity_name": "ERBB2",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:38:06.561871+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERBB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ERBB2",
"entity_type": "gene"
},
{
"created": "2020-05-24T20:37:23.778792+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERBB2 as ready",
"entity_name": "ERBB2",
"entity_type": "gene"
}
]
}