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{
"count": 220806,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1245",
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"results": [
{
"created": "2021-08-11T08:22:38.247152+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOS2 as ready",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2021-08-11T08:22:38.236549+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sos2 has been classified as Green List (High Evidence).",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2021-08-11T08:22:35.248278+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOS2 were changed from Noonan syndrome 9 to Noonan syndrome 9, MIM# 616559",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2021-08-11T08:22:26.342229+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOS2 were set to 25795793; 26173643",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2021-08-11T08:22:16.210636+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SOS2 was changed from Other - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2021-08-11T08:22:08.906164+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOS2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2021-08-11T08:21:27.802370+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOS1 as ready",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2021-08-11T08:21:27.791374+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sos1 has been classified as Green List (High Evidence).",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2021-08-11T08:21:24.145328+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOS1 were changed from Noonan syndrome; Rasopathy; Noonan syndrome 4 to Noonan syndrome 4, MIM# 610733",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2021-08-11T08:20:32.195982+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLX4 as ready",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2021-08-11T08:20:32.186267+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slx4 has been classified as Green List (High Evidence).",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2021-08-11T08:20:29.880243+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLX4 were changed from 613951 Fanconi Anemia Fanconi anemia, complementation group P; Fanconi anemia, complementation group P, 613951; Fanconi Anemia to Fanconi anemia, complementation group P, MIM# 613951",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2021-08-11T08:20:11.836257+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: SLX4: Poor growth is an early feature.",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2021-08-11T08:19:16.789846+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHOC2 as ready",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2021-08-11T08:19:16.780553+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shoc2 has been classified as Green List (High Evidence).",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2021-08-11T08:19:13.082399+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHOC2 were changed from to Noonan syndrome-like with loose anagen hair 1, MIM# 607721",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2021-08-11T08:18:46.662969+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SHOC2 were set to ",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2021-08-11T08:18:13.697542+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SHOC2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2021-08-11T08:17:43.526930+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SHOC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2021-08-11T08:17:07.965263+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 19684605, 23918763, 20882035; Phenotypes: Noonan syndrome-like with loose anagen hair 1, MIM# 607721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2021-08-11T08:15:52.736903+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHOC2 as ready",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2021-08-11T08:15:52.726445+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shoc2 has been classified as Green List (High Evidence).",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2021-08-11T08:15:49.537938+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHOC2 were changed from Noonan with loss of anagen hair; Noonan-like syndrome with loose anagen hair to Noonan syndrome-like with loose anagen hair 1, MIM# 607721",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2021-08-11T08:14:38.247379+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC41A1 as ready",
"entity_name": "SLC41A1",
"entity_type": "gene"
},
{
"created": "2021-08-11T08:14:38.238009+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc41a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC41A1",
"entity_type": "gene"
},
{
"created": "2021-08-11T08:14:34.615647+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC41A1 were changed from Parkinson disease, idiopathic to Nephronophthisis-like nephropathy 2, MIM# 619468",
"entity_name": "SLC41A1",
"entity_type": "gene"
},
{
"created": "2021-08-11T08:14:20.553577+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC41A1 were set to ",
"entity_name": "SLC41A1",
"entity_type": "gene"
},
{
"created": "2021-08-11T08:14:10.812926+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC41A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC41A1",
"entity_type": "gene"
},
{
"created": "2021-08-11T08:13:55.830867+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC41A1: Rating: RED; Mode of pathogenicity: None; Publications: 23661805; Phenotypes: Nephronophthisis-like nephropathy 2, MIM# 619468; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC41A1",
"entity_type": "gene"
},
{
"created": "2021-08-11T08:13:04.284076+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC41A1 were changed from Nephronophthisis to Nephronophthisis-like nephropathy 2, MIM# 619468",
"entity_name": "SLC41A1",
"entity_type": "gene"
},
{
"created": "2021-08-11T08:12:42.924031+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC41A1: Changed phenotypes: Nephronophthisis-like nephropathy 2, MIM# 619468",
"entity_name": "SLC41A1",
"entity_type": "gene"
},
{
"created": "2021-08-11T08:12:04.572579+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC41A1 were changed from Nephronophthisis; no OMIM number to Nephronophthisis-like nephropathy 2, MIM# 619468",
"entity_name": "SLC41A1",
"entity_type": "gene"
},
{
"created": "2021-08-11T08:11:32.859433+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC41A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis-like nephropathy 2, MIM# 619468; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC41A1",
"entity_type": "gene"
},
{
"created": "2021-08-10T18:15:05.671926+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBCK1 as ready",
"entity_name": "RBCK1",
"entity_type": "gene"
},
{
"created": "2021-08-10T18:15:05.662071+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbck1 has been classified as Green List (High Evidence).",
"entity_name": "RBCK1",
"entity_type": "gene"
},
{
"created": "2021-08-10T18:14:59.403888+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBCK1 were changed from to Polyglucosan body myopathy 1 with or without immunodeficiency MIM# 615895; muscular weakness; cardiomyopathy; recurrent bacterial/viral infections; autoinflammation; immunodeficiency; Poor antibody responses to polysaccharides; failure to thrive; fever; pneumonia",
"entity_name": "RBCK1",
"entity_type": "gene"
},
{
"created": "2021-08-10T18:13:52.665538+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RBCK1 were set to ",
"entity_name": "RBCK1",
"entity_type": "gene"
},
{
"created": "2021-08-10T18:13:03.063871+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RBCK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RBCK1",
"entity_type": "gene"
},
{
"created": "2021-08-10T18:12:13.468642+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYH7 as ready",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2021-08-10T18:12:13.455796+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myh7 has been classified as Green List (High Evidence).",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2021-08-10T18:12:10.812788+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYH7 were changed from to Ebstein anomaly",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2021-08-10T18:11:47.014402+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYH7 were set to ",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2021-08-10T18:11:20.727827+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: MYH7 was changed from to Other",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2021-08-10T18:11:00.914978+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYH7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2021-08-10T18:10:01.094153+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRPF31 as ready",
"entity_name": "PRPF31",
"entity_type": "gene"
},
{
"created": "2021-08-10T18:10:01.085131+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prpf31 has been classified as Green List (High Evidence).",
"entity_name": "PRPF31",
"entity_type": "gene"
},
{
"created": "2021-08-10T18:09:52.558089+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRPF31 were changed from to Retinitis pigmentosa 11, MIM#600138",
"entity_name": "PRPF31",
"entity_type": "gene"
},
{
"created": "2021-08-10T18:09:32.785351+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRPF31 were set to ",
"entity_name": "PRPF31",
"entity_type": "gene"
},
{
"created": "2021-08-10T18:09:14.288478+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRPF31 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRPF31",
"entity_type": "gene"
},
{
"created": "2021-08-10T18:08:55.258946+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: PRPF31.",
"entity_name": "PRPF31",
"entity_type": "gene"
},
{
"created": "2021-08-10T18:08:42.891683+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRPF31: Rating: GREEN; Mode of pathogenicity: None; Publications: 32014492; Phenotypes: Retinitis pigmentosa 11, MIM#600138; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRPF31",
"entity_type": "gene"
},
{
"created": "2021-08-10T18:07:45.163224+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNF168 as ready",
"entity_name": "RNF168",
"entity_type": "gene"
},
{
"created": "2021-08-10T18:07:45.152801+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf168 has been classified as Green List (High Evidence).",
"entity_name": "RNF168",
"entity_type": "gene"
},
{
"created": "2021-08-10T18:07:36.105715+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNF168 were changed from to RIDDLE syndrome MIM# 611943; Radiosensitivity; Immune Deficiency; Dysmorphic Features; Learning difficulties; Low IgG or IgA; Short stature; mild defect of motor control to ataxia; normal intelligence to learning difficulties; mild facial dysmorphism to microcephaly",
"entity_name": "RNF168",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:32:53.507746+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNF168 as ready",
"entity_name": "RNF168",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:32:53.498009+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf168 has been classified as Green List (High Evidence).",
"entity_name": "RNF168",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:32:48.868130+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNF168 as Green List (high evidence)",
"entity_name": "RNF168",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:32:48.858209+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf168 has been classified as Green List (High Evidence).",
"entity_name": "RNF168",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:32:00.424258+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8724",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNF168 were set to ",
"entity_name": "RNF168",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:31:49.533241+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.2",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "gene: RNF168 was added\ngene: RNF168 was added to Chromosome Breakage Disorders. Sources: Literature\nMode of inheritance for gene: RNF168 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNF168 were set to 19203578; 21394101; 29255463; 21552324\nPhenotypes for gene: RNF168 were set to RIDDLE syndrome MIM# 611943; Radiosensitivity; Immune Deficiency; Dysmorphic Features; Learning difficulties; Low IgG or IgA; Short stature; mild defect of motor control to ataxia; normal intelligence to learning difficulties; mild facial dysmorphism to microcephaly\nReview for gene: RNF168 was set to GREEN\nAdded comment: 4 individuals from 3 unrelated families have been reported with RNF168 variants and display RIDDLE syndrome phenotype.\r\n\r\nOne mouse model; demonstrated RNF168 deficient mice are immunodeficient and exhibit increased radiosensitivity.\r\n\r\nHomozygous and Compound heterozygous (duplications, deletions and nonsense) variants identified resulting in frameshift, aberrant protein and alteration of binding motifs.\r\n\r\nTypically presents with increased radiosensitivity, immunodeficiency (decrease IgA), mild motor control and learning difficulties, facial dysmorphism, and short stature. \nSources: Literature",
"entity_name": "RNF168",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:31:38.811033+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8723",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RNF168 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNF168",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:31:37.422711+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNF168 as ready",
"entity_name": "RNF168",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:31:37.411065+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf168 has been classified as Green List (High Evidence).",
"entity_name": "RNF168",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:31:03.491979+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RFXAP as ready",
"entity_name": "RFXAP",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:31:03.481940+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rfxap has been classified as Green List (High Evidence).",
"entity_name": "RFXAP",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:30:52.888981+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RFXAP were changed from to Bare lymphocyte syndrome, type II, complementation group D MIM# 209920; Low CD4+ T cells; reduced MHC II expression on lymphocytes; Normal-low Ig levels; Failure to thrive; respiratory/gastrointestinal infections; liver/biliary tract disease; diarrhoea; Severe autoimmune cytopaenia; agammaglobulinaemia",
"entity_name": "RFXAP",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:30:35.164339+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNF168 were changed from to RIDDLE syndrome MIM# 611943; Radiosensitivity; Immune Deficiency; Dysmorphic Features; Learning difficulties; Low IgG or IgA; Short stature; mild defect of motor control to ataxia; normal intelligence to learning difficulties; mild facial dysmorphism to microcephaly",
"entity_name": "RNF168",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:30:33.641772+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8721",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RFXAP were set to ",
"entity_name": "RFXAP",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:28:40.416359+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNF168 were set to ",
"entity_name": "RNF168",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:28:09.963854+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RNF168 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNF168",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:27:08.572592+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8720",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RFXAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RFXAP",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:26:50.683697+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: RFXAP.",
"entity_name": "RFXAP",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:26:23.653941+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RFXANK as ready",
"entity_name": "RFXANK",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:26:23.644231+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rfxank has been classified as Green List (High Evidence).",
"entity_name": "RFXANK",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:26:19.832111+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RFXAP as ready",
"entity_name": "RFXAP",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:26:19.821039+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rfxap has been classified as Green List (High Evidence).",
"entity_name": "RFXAP",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:26:11.062113+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RFXAP were changed from to Bare lymphocyte syndrome, type II, complementation group D MIM# 209920; Low CD4+ T cells; reduced MHC II expression on lymphocytes; Normal-low Ig levels; Failure to thrive; respiratory/gastrointestinal infections; liver/biliary tract disease; diarrhoea; Severe autoimmune cytopaenia; agammaglobulinaemia",
"entity_name": "RFXAP",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:26:04.291008+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RFXANK were changed from to MHC class II deficiency, complementation group B MIM# 209920; Bare Lymphocyte Syndrome, type II, complementation group B; Low CD4+ T cells; reduced MHC II expression on lymphocytes; Normal-low Ig levels; Failure to thrive; respiratory/gastrointestinal infections; liver/biliary tract disease; diarrhoea; Severe autoimmune cytopaenia; agammaglobulinaemia",
"entity_name": "RFXANK",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:25:47.413579+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RFXAP were set to ",
"entity_name": "RFXAP",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:25:22.212260+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RFXANK were set to ",
"entity_name": "RFXANK",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:25:07.000350+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RFXAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RFXAP",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:25:00.658088+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8717",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: RFXANK.",
"entity_name": "RFXANK",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:24:52.375880+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.115",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: RBCK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29260357, 29695863; Phenotypes: Polyglucosan body myopathy 1 with or without immunodeficiency MIM# 615895, muscular weakness, cardiomyopathy, recurrent bacterial/viral infections, autoinflammation, immunodeficiency, Poor antibody responses to polysaccharides, failure to thrive, fever, pneumonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RBCK1",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:24:10.571090+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8717",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RFXANK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RFXANK",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:23:37.181030+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RFXANK as ready",
"entity_name": "RFXANK",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:23:37.170662+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rfxank has been classified as Green List (High Evidence).",
"entity_name": "RFXANK",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:23:29.126254+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RFXANK were changed from to MHC class II deficiency, complementation group B MIM# 209920; Bare Lymphocyte Syndrome, type II, complementation group B; Low CD4+ T cells; reduced MHC II expression on lymphocytes; Normal-low Ig levels; Failure to thrive; respiratory/gastrointestinal infections; liver/biliary tract disease; diarrhoea; Severe autoimmune cytopaenia; agammaglobulinaemia",
"entity_name": "RFXANK",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:22:45.145383+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RFXANK were set to ",
"entity_name": "RFXANK",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:22:41.908386+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBCK1 as ready",
"entity_name": "RBCK1",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:22:41.896980+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbck1 has been classified as Green List (High Evidence).",
"entity_name": "RBCK1",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:22:30.071441+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBCK1 were changed from to Polyglucosan body myopathy 1 with or without immunodeficiency MIM# 615895; muscular weakness; cardiomyopathy; recurrent bacterial/viral infections; autoinflammation; immunodeficiency; Poor antibody responses to polysaccharides; failure to thrive; fever; pneumonia",
"entity_name": "RBCK1",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:22:20.921907+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RFXANK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RFXANK",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:21:51.697335+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: RFXANK.",
"entity_name": "RFXANK",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:20:55.730404+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBCK1 as ready",
"entity_name": "RBCK1",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:20:55.720566+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbck1 has been classified as Green List (High Evidence).",
"entity_name": "RBCK1",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:20:50.311993+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8715",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RBCK1 were set to ",
"entity_name": "RBCK1",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:20:47.228841+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBCK1 were changed from to Polyglucosan body myopathy 1 with or without immunodeficiency MIM# 615895; muscular weakness; cardiomyopathy; recurrent bacterial/viral infections; autoinflammation; immunodeficiency; Poor antibody responses to polysaccharides; failure to thrive; fever; pneumonia",
"entity_name": "RBCK1",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:20:26.057105+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8714",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RBCK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RBCK1",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:20:07.942516+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RBCK1 were set to ",
"entity_name": "RBCK1",
"entity_type": "gene"
},
{
"created": "2021-08-10T17:19:40.407432+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RBCK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RBCK1",
"entity_type": "gene"
}
]
}