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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=318",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=316",
"results": [
{
"created": "2024-12-24T14:22:21.623624+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RTEL1 were set to ",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:21:59.367542+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SACS as ready",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:21:59.361355+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: There is also a relatively common CNV.",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:21:59.314440+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sacs has been classified as Green List (High Evidence).",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:21:49.373113+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SACS were changed from Spastic ataxia, Charlevoix-Saguenay type, 270550 (3) to Spastic ataxia, Charlevoix-Saguenay type, MIM#270550",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:21:38.580530+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SACS were set to ",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:21:26.352204+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: SACS.",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:21:04.233015+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGG as ready",
"entity_name": "PIGG",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:21:04.206304+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigg has been classified as Green List (High Evidence).",
"entity_name": "PIGG",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:21:00.355515+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGG were set to ",
"entity_name": "PIGG",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:20:48.498764+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIGG: Rating: GREEN; Mode of pathogenicity: None; Publications: 26996948; Phenotypes: Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy MIM#616917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGG",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:19:10.019000+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HAX1 as ready",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:19:10.007835+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hax1 has been classified as Green List (High Evidence).",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:19:06.421663+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HAX1 were changed from Neutropenia, severe congenital 3, autosomal recessive, 610738 (3) to Neutropenia, severe congenital 3, autosomal recessive, MIM#610738",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:18:56.166895+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HAX1 were set to ",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:18:26.450466+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPS4 as ready",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:18:26.438729+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hps4 has been classified as Green List (High Evidence).",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:18:17.282622+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPS4 were changed from Hermansky-Pudlak syndrome 4, 614073 (3) to Hermansky-Pudlak syndrome 4, MIM #614073",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:18:04.932782+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HPS4 were set to ",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:17:39.549129+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INPPL1 as ready",
"entity_name": "INPPL1",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:17:39.536383+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: inppl1 has been classified as Green List (High Evidence).",
"entity_name": "INPPL1",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:17:36.808083+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INPPL1 were changed from Opsismodysplasia, 258480 (3) to Opsismodysplasia MIM #258480",
"entity_name": "INPPL1",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:17:26.009601+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: INPPL1 were set to ",
"entity_name": "INPPL1",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:16:23.964520+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF14 as ready",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:16:23.953072+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif14 has been classified as Green List (High Evidence).",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:16:20.628933+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF14 were changed from Microcephaly 20, primary, autosomal recessive, 617914 (3) to Microcephaly 20, primary, autosomal recessive, MIM #617914",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:16:08.493410+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF14 were set to ",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:15:55.262952+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 20, primary, autosomal recessive, MIM #617914; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:15:26.827927+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMC3 as ready",
"entity_name": "LAMC3",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:15:26.817405+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamc3 has been classified as Green List (High Evidence).",
"entity_name": "LAMC3",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:15:23.072389+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMC3 were changed from Cortical malformations, occipital, 614115 (3) to Cortical malformations, occipital, MIM #614115",
"entity_name": "LAMC3",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:15:12.094288+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LAMC3 were set to ",
"entity_name": "LAMC3",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:14:38.564944+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIPK4 as ready",
"entity_name": "RIPK4",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:14:38.551408+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ripk4 has been classified as Green List (High Evidence).",
"entity_name": "RIPK4",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:14:35.278558+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RIPK4 were changed from Popliteal pterygium syndrome 2, lethal type, 263650 (3) to Popliteal pterygium syndrome, Bartsocas-Papas type 1, MIM# 263650",
"entity_name": "RIPK4",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:14:22.972803+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RIPK4 were set to ",
"entity_name": "RIPK4",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:13:55.577224+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XIAP as ready",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:13:55.561600+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xiap has been classified as Green List (High Evidence).",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:13:08.643018+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: XIAP were changed from Lymphoproliferative syndrome, X-linked, 2, 300635 (3) to Lymphoproliferative syndorme, X-linked, 2 MIM#300635",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:12:56.075142+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: XIAP were set to ",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:11:05.549159+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C1QB as ready",
"entity_name": "C1QB",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:11:05.536637+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c1qb has been classified as Green List (High Evidence).",
"entity_name": "C1QB",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:11:02.909713+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C1QB were changed from C1q deficiency, 613652 (3) to C1q deficiency, MIM# 613652",
"entity_name": "C1QB",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:10:46.596823+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C1QB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C1q deficiency, MIM# 613652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C1QB",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:07:52.271097+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C5orf42 as ready",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:07:52.256839+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c5orf42 has been classified as Green List (High Evidence).",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:07:49.288156+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C5orf42 were changed from Joubert syndrome 17, 614615 (3) to Joubert syndrome 17, MIM# 614615; Orofaciodigital syndrome VI, MIM# 277170",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:07:38.703653+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C5orf42 were set to ",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:07:28.773600+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C5orf42.",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:07:20.794577+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C5orf42: Rating: GREEN; Mode of pathogenicity: None; Publications: 22425360, 24178751; Phenotypes: Joubert syndrome 17, MIM# 614615, Orofaciodigital syndrome VI, MIM# 277170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:04:39.837160+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CC2D1A as ready",
"entity_name": "CC2D1A",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:04:39.825760+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cc2d1a has been classified as Green List (High Evidence).",
"entity_name": "CC2D1A",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:04:36.813683+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CC2D1A were changed from Mental retardation, autosomal recessive 3, 608443 (3) to Intellectual developmental disorder, autosomal recessive 3, MIM# 608443",
"entity_name": "CC2D1A",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:04:25.009859+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CC2D1A were set to ",
"entity_name": "CC2D1A",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:04:00.986855+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CC2D1A were changed from Autosomal recessive mental retardation, (MIM#608443) to Intellectual developmental disorder, autosomal recessive 3, MIM# 608443",
"entity_name": "CC2D1A",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:03:37.759812+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CC2D1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25066123; Phenotypes: Intellectual developmental disorder, autosomal recessive 3, MIM# 608443; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CC2D1A",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:02:51.246756+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CC2D1A: Changed phenotypes: Intellectual developmental disorder, autosomal recessive 3, MIM# 608443",
"entity_name": "CC2D1A",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:02:02.888582+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDH3 as ready",
"entity_name": "CDH3",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:02:02.877371+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdh3 has been classified as Green List (High Evidence).",
"entity_name": "CDH3",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:01:59.459359+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDH3 were changed from Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3) to Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280; Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553",
"entity_name": "CDH3",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:01:47.101128+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDH3 were set to ",
"entity_name": "CDH3",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:01:35.118476+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11544476, 15805154, 28061825, 22140374; Phenotypes: Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280, Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDH3",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:00:12.846656+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP120 as ready",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:00:12.834295+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep120 has been classified as Green List (High Evidence).",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2024-12-24T14:00:09.013592+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP120 were changed from Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3) to Joubert syndrome 31, MIM# 617761; Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:59:57.966979+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP120 were set to ",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:59:45.744774+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP120: Rating: GREEN; Mode of pathogenicity: None; Publications: 27208211, 33486889, 29847808, 25361962, 27208211; Phenotypes: Joubert syndrome 31, MIM# 617761, Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:58:36.009440+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFD as ready",
"entity_name": "CFD",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:58:35.992420+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfd has been classified as Green List (High Evidence).",
"entity_name": "CFD",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:58:33.067478+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFD were changed from Complement factor D deficiency, 613912 (3) to Complement factor D deficiency, MIM# 613912",
"entity_name": "CFD",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:58:22.809164+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CFD were set to ",
"entity_name": "CFD",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:56:50.615161+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CFD: Rating: GREEN; Mode of pathogenicity: None; Publications: 11457876, 16527897, 31440263; Phenotypes: Complement factor D deficiency, MIM# 613912; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFD",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:55:14.101055+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHSY1 as ready",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:55:14.082869+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chsy1 has been classified as Green List (High Evidence).",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:55:10.730300+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHSY1 were changed from Temtamy preaxial brachydactyly syndrome, 605282 (3) to Temtamy preaxial brachydactyly syndrome, MIM# 605282",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:55:00.213200+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHSY1 were set to ",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:54:48.469840+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHSY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21129728, 21129727, 24269551; Phenotypes: Temtamy preaxial brachydactyly syndrome, MIM# 605282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:52:29.758504+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLCN5 as ready",
"entity_name": "CLCN5",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:52:29.733341+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn5 has been classified as Green List (High Evidence).",
"entity_name": "CLCN5",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:52:26.548355+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLCN5 were changed from Dent disease, 300009 (3) to Dent disease, MIM#300009",
"entity_name": "CLCN5",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:52:12.457541+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLCN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dent disease, MIM#300009; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CLCN5",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:50:43.488199+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLMP as ready",
"entity_name": "CLMP",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:50:43.439148+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clmp has been classified as Green List (High Evidence).",
"entity_name": "CLMP",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:50:40.345358+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLMP were changed from Congenital short bowel syndrome, 615237 (3) to Congenital short bowel syndrome , MIM#615237",
"entity_name": "CLMP",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:50:33.420589+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLMP were set to ",
"entity_name": "CLMP",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:50:21.523560+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 22155368; Phenotypes: Congenital short bowel syndrome , MIM#615237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLMP",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:48:52.490024+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL6A2 as ready",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:48:52.475437+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.855",
"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": "2024-12-24T13:48:49.485579+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL6A2 were changed from Ullrich congenital muscular dystrophy 1, 254090 (3) to Bethlem myopathy 1B, MIM# 620725; Ullrich congenital muscular dystrophy 1B, MIM# 620727",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:48:36.247029+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL6A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy 1B, MIM# 620725, Ullrich congenital muscular dystrophy 1B, MIM# 620727; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:46:56.215965+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CUL4B as ready",
"entity_name": "CUL4B",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:46:56.203780+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cul4b has been classified as Green List (High Evidence).",
"entity_name": "CUL4B",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:46:48.468494+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CUL4B were changed from Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3) to Intellectual developmental disorder, X-linked syndromic, Cabezas type, MIM#300354",
"entity_name": "CUL4B",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:46:38.052991+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CUL4B were set to ",
"entity_name": "CUL4B",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:46:31.628155+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CUL4B were changed from Mental retardation, X-linked, syndromic 15 (Cabezas type), MIM# 300354 to Intellectual developmental disorder, X-linked syndromic, Cabezas type, MIM#300354",
"entity_name": "CUL4B",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:46:14.704508+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CUL4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 17236139, 19377476; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Cabezas type, MIM#300354; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CUL4B",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:45:54.392391+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CUL4B: Changed phenotypes: Intellectual developmental disorder, X-linked syndromic, Cabezas type, MIM#300354",
"entity_name": "CUL4B",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:44:56.625525+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DENND5A as ready",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:44:56.613070+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dennd5a has been classified as Green List (High Evidence).",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2024-12-24T13:44:53.178993+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DENND5A were changed from Epileptic encephalopathy, early infantile, 49, 617281 (3), Autosomal recessive to Epileptic encephalopathy, early infantile, 49, MIM# 617281",
"entity_name": "DENND5A",
"entity_type": "gene"
}
]
}