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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1360",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1358",
"results": [
{
"created": "2021-04-08T18:00:33.769344+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAJC5 were changed from to Ceroid lipofuscinosis, neuronal, 4, Parry type, MIM# 162350; MONDO:0008083",
"entity_name": "DNAJC5",
"entity_type": "gene"
},
{
"created": "2021-04-08T18:00:06.865480+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAJC5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DNAJC5",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:59:41.094420+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNAJC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 21820099, 22073189, 22235333, 22978711; Phenotypes: Ceroid lipofuscinosis, neuronal, 4, Parry type, MIM# 162350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DNAJC5",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:39:11.850482+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTSD as ready",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:39:11.840748+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctsd has been classified as Green List (High Evidence).",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:39:05.346087+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTSD were changed from to Ceroid lipofuscinosis, neuronal, 10, MIM# 610127; MONDO:0012414",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:38:48.702191+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CTSD were set to ",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:38:28.921981+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CTSD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:38:07.581498+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CTSD: Rating: GREEN; Mode of pathogenicity: None; Publications: 16685649, 16670177, 25298308, 33681191, 29284168, 27072142; Phenotypes: Ceroid lipofuscinosis, neuronal, 10, MIM# 610127, MONDO:0012414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:36:58.638770+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTSD as ready",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:36:58.626615+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctsd has been classified as Green List (High Evidence).",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:36:52.138461+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTSD were changed from to Ceroid lipofuscinosis, neuronal, 10, MIM# 610127; MONDO:0012414",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:36:25.800628+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CTSD were set to ",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:35:45.956626+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CTSD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:35:00.336301+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CTSD: Rating: GREEN; Mode of pathogenicity: None; Publications: 16685649, 16670177, 25298308, 33681191, 29284168, 27072142; Phenotypes: Ceroid lipofuscinosis, neuronal, 10, MIM# 610127, MONDO:0012414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:15:46.044464+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLN8 as ready",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:15:46.033114+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln8 has been classified as Green List (High Evidence).",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:15:43.379179+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLN8 were changed from to Ceroid lipofuscinosis, neuronal, 8, MIM# 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:15:16.758554+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLN8 were set to ",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:14:47.834324+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLN8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:14:21.539266+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: CLN8.",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:14:12.047477+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: None; Publications: 10508524, 15024724, 16570191; Phenotypes: Ceroid lipofuscinosis, neuronal, 8, MIM# 600143, Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:11:47.273250+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLN6 as ready",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:11:47.261082+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln6 has been classified as Green List (High Evidence).",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:11:42.078549+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLN6 were changed from to Ceroid lipofuscinosis, neuronal, 6, MIM# 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:10:57.839645+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLN6 were set to ",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:10:13.031214+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLN6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:09:46.198338+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: None; Publications: 11791207, 11727201, 21549341; Phenotypes: Ceroid lipofuscinosis, neuronal, 6, MIM# 601780, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:06:16.952034+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC88C as ready",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:06:16.938194+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc88c has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:06:12.568776+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC88C as Amber List (moderate evidence)",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:06:12.559256+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc88c has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:05:04.791796+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC88C was added\ngene: CCDC88C was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: CCDC88C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CCDC88C were set to 33602173\nPhenotypes for gene: CCDC88C were set to Early-onset pure hereditary spastic paraplegia\nReview for gene: CCDC88C was set to AMBER\nAdded comment: Heterozygous missense variant (gnomad: 1 het) reported in a 48-year-old Sudanese female presented with pure early onset hereditary spastic paraplegia. In contrast to previous reports, she developed neurological symptoms in early childhood and showed neither features of cerebellar ataxia, extrapyramidal signs, nor evidence of intellectual involvement. Functional studies showed the varaint induced JNK hyper-phosphorylation and enhanced apoptosis. 4 unaffected family members did not have the variant.\r\n\r\nGene has been linked to other neurological phenotypes: mono-allelic variants to SCA, and bi-allelic variants to ID. \nSources: Literature",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:04:06.648128+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC88C were changed from Spinocerebellar ataxia 40, MIM#616053; Hydrocephalus, nonsyndromic, autosomal recessive 236600; Eearly-onset pure hereditary spastic paraplegia to Spinocerebellar ataxia 40, MIM#616053; Hydrocephalus, nonsyndromic, autosomal recessive 236600; Early-onset pure hereditary spastic paraplegia",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:02:29.416504+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC88C were changed from Spinocerebellar ataxia 40, MIM#616053; Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR to Spinocerebellar ataxia 40, MIM#616053; Hydrocephalus, nonsyndromic, autosomal recessive 236600; Eearly-onset pure hereditary spastic paraplegia",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2021-04-08T17:02:05.715983+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC88C were set to 23042809; 21031079; 25062847; 30398676",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2021-04-08T12:51:05.125838+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7056",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Heterozygous missense variant (gnomad: 1 het) reported in a 48-year-old Sudanese female presented with pure early onset hereditary spastic paraplegia. In contrast to previous reports, she developed neurological symptoms in early childhood and showed neither features of cerebellar ataxia, extrapyramidal signs, nor evidence of intellectual involvement. Functional studies showed the varaint induced JNK hyper-phosphorylation and enhanced apoptosis. 4 unaffected family members did not have the variant.\r\n\r\nThis phenotype appears to be sufficiently dissimilar to the 2 previously reported SCA families to not constitute a 3rd supporting report in that context.; to: Heterozygous missense variant (gnomad: 1 het) reported in a 48-year-old Sudanese female presented with pure early onset hereditary spastic paraplegia. In contrast to previous reports, she developed neurological symptoms in early childhood and showed neither features of cerebellar ataxia, extrapyramidal signs, nor evidence of intellectual involvement. Functional studies showed the varaint induced JNK hyper-phosphorylation and enhanced apoptosis. 4 unaffected family members did not have the variant.\r\n\r\nNB: Rated Amber as this phenotype appears to be sufficiently dissimilar to the 2 previously reported SCA families to not constitute a 3rd supporting report in that context. Gene remains Green for the AR ID phenotype.",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2021-04-08T12:50:29.148199+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7056",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: CCDC88C: Changed rating: AMBER; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2021-04-08T12:46:50.729181+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7056",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: CCDC88C: Rating: GREEN; Mode of pathogenicity: None; Publications: 33602173; Phenotypes: Eearly-onset pure hereditary spastic paraplegia; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2021-04-08T08:50:37.235354+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NMNAT1 as ready",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2021-04-08T08:50:37.224583+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nmnat1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2021-04-08T08:50:29.530585+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: NMNAT1.\nTag founder tag was added to gene: NMNAT1.",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2021-04-08T08:50:16.220906+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NMNAT1 as Amber List (moderate evidence)",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2021-04-08T08:50:16.210747+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nmnat1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2021-04-08T08:49:28.945617+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NMNAT1 was added\ngene: NMNAT1 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NMNAT1 were set to 32533184; 33668384\nPhenotypes for gene: NMNAT1 were set to Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260\nReview for gene: NMNAT1 was set to AMBER\nAdded comment: Three families reported, but two are distantly related (shared haplotype). The affected children in those two families were homozygous for 7.4-kb duplication involving the last 2 exons of the NMNAT1 gene, spanning the beginning of intron 3 to the middle of the 3-prime UTR (chr1:10,036,359-10,043,727, GRCh37). The third affected individual was compound het for the duplication and a splicing variant. \nSources: Literature",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2021-04-08T08:48:33.264176+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NMNAT1: Changed phenotypes: Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2021-04-08T08:48:11.325294+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NMNAT1 were changed from Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260; Leber congenital amaurosis 9, MIM#\t608553 to Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2021-04-08T08:46:34.900783+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NMNAT1 as ready",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2021-04-08T08:46:34.888546+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nmnat1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2021-04-08T08:46:27.190069+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NMNAT1 as Amber List (moderate evidence)",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2021-04-08T08:46:27.180232+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nmnat1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2021-04-08T08:45:52.687612+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NMNAT1 was added\ngene: NMNAT1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nSV/CNV, founder tags were added to gene: NMNAT1.\nMode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NMNAT1 were set to 32533184; 33668384\nPhenotypes for gene: NMNAT1 were set to Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260; Leber congenital amaurosis 9, MIM#\t608553\nReview for gene: NMNAT1 was set to AMBER\nAdded comment: Three families reported, but two are distantly related (shared haplotype). The affected children in those two families were homozygous for 7.4-kb duplication involving the last 2 exons of the NMNAT1 gene, spanning the beginning of intron 3 to the middle of the 3-prime UTR (chr1:10,036,359-10,043,727, GRCh37). The third affected individual was compound het for the duplication and a splicing variant.\r\n\r\nNote bi-allelic variants in this gene are associated with non-syndromic LCA, multiple families. \nSources: Literature",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2021-04-08T08:44:32.762618+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NMNAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2021-04-08T08:42:52.628935+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NMNAT1 were changed from to Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260; Leber congenital amaurosis 9, MIM# 608553",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2021-04-08T08:42:28.859788+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NMNAT1 were set to ",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2021-04-08T08:41:08.875096+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: NMNAT1.\nTag founder tag was added to gene: NMNAT1.",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2021-04-08T08:40:47.576976+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NMNAT1 as ready",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2021-04-08T08:40:47.565355+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nmnat1 has been classified as Green List (High Evidence).",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2021-04-08T08:40:13.346414+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NMNAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32533184, 33668384, 22842230, 22842229; Phenotypes: Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260, Leber congenital amaurosis 9, MIM# 608553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2021-04-08T07:01:24.099717+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZMPSTE24 were changed from Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; MONDO:0012074; Restrictive dermopathy, lethal, MIM# 275210 to Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; MONDO:0012074; Restrictive dermopathy, lethal, MIM# 275210; MONDO:0010143",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2021-04-08T07:00:45.683557+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ZMPSTE24: Changed phenotypes: Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612, MONDO:0012074, Restrictive dermopathy, lethal, MIM# 275210, MONDO:0010143",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2021-04-08T07:00:06.591741+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZMPSTE24 were changed from Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; MONDO:0012074; Restrictive dermopathy, lethal, MIM# 275210 to Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; MONDO:0012074; Restrictive dermopathy, lethal, MIM# 275210; MONDO:0010143",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:57:12.231492+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZMPSTE24 as ready",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:57:12.219260+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zmpste24 has been classified as Green List (High Evidence).",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:57:04.311254+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZMPSTE24 were changed from to Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; MONDO:0012074",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:56:41.558134+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZMPSTE24 were set to ",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:56:12.858931+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZMPSTE24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:55:23.191966+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ZMPSTE24: Changed publications: 11923874, 22718200, 29794150, 29208544, 12913070, 27410998",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:55:02.742967+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZMPSTE24: Rating: GREEN; Mode of pathogenicity: None; Publications: 11923874, 22718200, 29794150, 29208544, 12913070, 27410998, 27409638; Phenotypes: Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612, MONDO:0012074; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:52:59.950727+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZMPSTE24 as ready",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:52:59.940716+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zmpste24 has been classified as Green List (High Evidence).",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:52:57.452810+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZMPSTE24 were changed from to Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; MONDO:0012074; Restrictive dermopathy, lethal, MIM# 275210",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:52:29.865460+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZMPSTE24 were set to ",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:52:00.480785+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZMPSTE24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:51:36.082333+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZMPSTE24: Rating: GREEN; Mode of pathogenicity: None; Publications: 11923874, 22718200, 29794150, 29208544, 12913070, 27410998, 27409638, 15937076, 16671095, 22718200, 29794150, 24169522; Phenotypes: Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612, MONDO:0012074, Restrictive dermopathy, lethal, MIM# 275210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:50:25.916355+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZMPSTE24 as ready",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:50:25.903885+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zmpste24 has been classified as Green List (High Evidence).",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:50:17.826528+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZMPSTE24 were changed from to Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; MONDO:0012074; Restrictive dermopathy, lethal, MIM# 275210",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:49:57.043373+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZMPSTE24 were set to ",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:49:37.679652+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZMPSTE24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:49:17.339535+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZMPSTE24: Rating: GREEN; Mode of pathogenicity: None; Publications: 11923874, 22718200, 29794150, 29208544, 12913070, 27410998, 27409638, 15937076, 16671095, 22718200, 29794150, 24169522; Phenotypes: Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612, MONDO:0012074, Restrictive dermopathy, lethal, MIM# 275210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:35:17.660624+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR35 as ready",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:35:17.650489+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr35 has been classified as Green List (High Evidence).",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:35:14.603907+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR35 were changed from to Cranioectodermal dysplasia 2, MIM#613610; MONDO:0013323; Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091; MONDO:0013569",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:34:26.060200+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR35 were set to ",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:33:32.698108+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WDR35: Rating: GREEN; Mode of pathogenicity: None; Publications: 33421337, 29134781, 28870638, 26691894, 24027799, 21473986; Phenotypes: Cranioectodermal dysplasia 2, MIM#613610, MONDO:0013323, Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091, MONDO:0013569; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:31:37.421125+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR35 as ready",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:31:37.411045+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr35 has been classified as Green List (High Evidence).",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:31:34.022294+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR35 were changed from to Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091; MONDO:0013569",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:31:11.169533+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR35 were set to ",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:30:23.659741+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR35 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:29:51.746095+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WDR35: Rating: GREEN; Mode of pathogenicity: None; Publications: 21473986; Phenotypes: Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091, MONDO:0013569; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:28:08.755825+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WDR35: Rating: GREEN; Mode of pathogenicity: None; Publications: 33421337, 29134781, 28870638, 26691894, 24027799, 21473986; Phenotypes: Cranioectodermal dysplasia 2, MIM#613610, MONDO:0013323, Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091, MONDO:0013569; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:28:02.818992+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR35 as ready",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:28:02.807049+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr35 has been classified as Green List (High Evidence).",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:28:00.173531+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR35 were changed from to Cranioectodermal dysplasia 2, MIM#613610; MONDO:0013323; Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091; MONDO:0013569",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:27:31.575681+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR35 were set to ",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:26:54.366111+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR35 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:26:29.513329+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WDR35: Rating: GREEN; Mode of pathogenicity: None; Publications: 33421337, 29134781, 28870638, 26691894, 24027799, 21473986; Phenotypes: Cranioectodermal dysplasia 2, MIM#613610, MONDO:0013323, Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091, MONDO:0013569; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2021-04-08T06:20:27.588077+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR35 were changed from Cranioectodermal dysplasia 2, MIM#613610; Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091 to Cranioectodermal dysplasia 2, MIM#613610; MONDO:0013323; Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091; MONDO:0013569",
"entity_name": "WDR35",
"entity_type": "gene"
}
]
}