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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2047",
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"results": [
{
"created": "2019-12-12T10:22:56.869950+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1342",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: lss has been classified as Green List (High Evidence).",
"entity_name": "LSS",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:22:53.325104+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1342",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: LSS as Green List (high evidence)",
"entity_name": "LSS",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:22:53.317467+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1342",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: lss has been classified as Green List (High Evidence).",
"entity_name": "LSS",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:22:35.347645+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1341",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: LSS was added\ngene: LSS was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LSS were set to PMID: 30723320\nPhenotypes for gene: LSS were set to Cataract 44, OMIM #616509; Hypotrichosis 14, OMIM #618275\nReview for gene: LSS was set to GREEN\nAdded comment: Expanded the phenotypic spectrum of LSS to a recessive neuroectodermal syndrome formerly named alopecia with mental retardation (APMR) syndrome. Ten APMR individuals from 6 unrelated families with biallelic variants in LSS. Quantification of cholesterol and its precursors did not reveal noticeable imbalance. \nSources: Literature",
"entity_name": "LSS",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:19:36.984726+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1340",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: MACROD2 was added\ngene: MACROD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: MACROD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MACROD2 were set to PMID: 31055587\nPhenotypes for gene: MACROD2 were set to no OMIM number yet\nReview for gene: MACROD2 was set to RED\nAdded comment: 1 family with a few affected with microcephaly, ID, dysmorphic features, and polydactyly. Deletion of chromosome 20p12.1 involving the MACROD2 gene was found in several members of the family. qRT-PCR showed higher levels of a MACROD2 mRNA isoform in the individuals carrying the deletion. \nSources: Literature",
"entity_name": "MACROD2",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:10:59.510088+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1339",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Marked gene: MAST1 as ready",
"entity_name": "MAST1",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:10:59.502334+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1339",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: mast1 has been classified as Green List (High Evidence).",
"entity_name": "MAST1",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:10:56.374800+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1339",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: MAST1 as Green List (high evidence)",
"entity_name": "MAST1",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:10:56.367405+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1339",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: mast1 has been classified as Green List (High Evidence).",
"entity_name": "MAST1",
"entity_type": "gene"
},
{
"created": "2019-12-12T10:10:31.306426+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1338",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: MAST1 was added\ngene: MAST1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAST1 were set to PMID: 31721002; 30449657\nPhenotypes for gene: MAST1 were set to Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations; OMIM #618273\nReview for gene: MAST1 was set to GREEN\nAdded comment: 6 unrelated patients with mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) with de novo heterozygous mutations in MAST1 gene. In vitro functional studies showed that 1 of the variants (lys276del) increased MAST1 binding to microtubules compared to controls. Mutant mice heterozygous for a Mast1 leu278del allele showed a thicker corpus callosum compared to wildtype, and an overall reduction in cortical volume and thickness and decreased cerebellar volume and number of granule and Purkinje cells due to increased apoptosis compared to controls. \r\n\r\n1 Emirati patient with ID, microcephaly, and dysmorphic features, with missense variant in MAST1. \nSources: Literature",
"entity_name": "MAST1",
"entity_type": "gene"
},
{
"created": "2019-12-12T09:59:07.540612+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1337",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: MEPCE was added\ngene: MEPCE was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: MEPCE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MEPCE were set to PMID: 31467394\nPhenotypes for gene: MEPCE were set to no OMIM number yet\nReview for gene: MEPCE was set to RED\nAdded comment: 1 patient with global DD and seizures with de novo MEPCE nonsense variant. mRNA and protein analyses identified nonsense-mediated mRNA decay to underlie the decreased amount of MEPCE in patient fibroblasts followed by LARP7 and 7SK snRNA downregulation and HEXIM1 upregulation. Flavopiridol treatment and ectopic MEPCE protein expression in patient fibroblasts rescued increased expression of six RNAP II-sensitive genes and suggested a possible repressive effect of MEPCE on P-TEFb-dependent transcription of specific genes. \nSources: Literature",
"entity_name": "MEPCE",
"entity_type": "gene"
},
{
"created": "2019-12-12T09:56:42.800667+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1336",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: NCAPD2 as Amber List (moderate evidence)",
"entity_name": "NCAPD2",
"entity_type": "gene"
},
{
"created": "2019-12-12T09:56:42.793197+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1336",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: ncapd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NCAPD2",
"entity_type": "gene"
},
{
"created": "2019-12-12T09:56:33.372358+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1335",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: NCAPD2 was added\ngene: NCAPD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: NCAPD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NCAPD2 were set to PMID: 31056748; 27737959; 28097321\nPhenotypes for gene: NCAPD2 were set to ?Microcephaly 21, primary, autosomal recessive; OMIM #617983\nReview for gene: NCAPD2 was set to AMBER\nAdded comment: 1 family with 2 sibs with microcephaly and ID, and homozygous NCAPD2 mutation, which segregated with disease. No functional evidence.\r\n\r\n1 family with 1 affected and homozygous NCAPD2 mutation, which segregated with disease. Patient fibroblasts showed impaired chromosome segregation and abnormal recovery from mitotic condensation compared to controls. \r\n\r\n1 family with 2 sibs with microcephaly, growth retardation, and ID, and homozygous NCAPD2 mutation, which segregated with disease. Functional studies of the variants and studies of patient cells were not performed. \nSources: Literature",
"entity_name": "NCAPD2",
"entity_type": "gene"
},
{
"created": "2019-12-12T09:50:59.934478+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1334",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Marked gene: NFASC as ready",
"entity_name": "NFASC",
"entity_type": "gene"
},
{
"created": "2019-12-12T09:50:59.927127+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1334",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: nfasc has been classified as Green List (High Evidence).",
"entity_name": "NFASC",
"entity_type": "gene"
},
{
"created": "2019-12-12T09:50:55.341492+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1334",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: NFASC as Green List (high evidence)",
"entity_name": "NFASC",
"entity_type": "gene"
},
{
"created": "2019-12-12T09:50:55.333866+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1334",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: nfasc has been classified as Green List (High Evidence).",
"entity_name": "NFASC",
"entity_type": "gene"
},
{
"created": "2019-12-12T09:50:17.855233+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1333",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: NFASC was added\ngene: NFASC was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: NFASC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NFASC were set to PMID: 31501903; 28940097; 30124836; 30850329; 31608123\nPhenotypes for gene: NFASC were set to Neurodevelopmental disorder with central and peripheral motor dysfunction; OMIM #618356\nReview for gene: NFASC was set to GREEN\nAdded comment: > 10 unrelated families reported, exhibiting a neurodevelopmental disorder (intellectual disability, developmental delay, motor impairment, speech difficulties, early onset demyelinating neuropathy), with homozygous variants in NFASC. Segregated with the disorder in the family. Some studies with functional evidence. \nSources: Literature",
"entity_name": "NFASC",
"entity_type": "gene"
},
{
"created": "2019-12-12T09:18:57.075031+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1332",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: NLGN1 was added\ngene: NLGN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: NLGN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NLGN1 were set to PMID: 30460678\nPhenotypes for gene: NLGN1 were set to no OMIM number yet\nReview for gene: NLGN1 was set to RED\nAdded comment: homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism. Segregated with disease. No functional studies. \nSources: Literature",
"entity_name": "NLGN1",
"entity_type": "gene"
},
{
"created": "2019-12-12T08:58:29.222051+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1331",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Marked gene: P4HTM as ready",
"entity_name": "P4HTM",
"entity_type": "gene"
},
{
"created": "2019-12-12T08:58:29.214692+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1331",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: p4htm has been classified as Green List (High Evidence).",
"entity_name": "P4HTM",
"entity_type": "gene"
},
{
"created": "2019-12-12T08:58:26.362287+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1331",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: P4HTM as Green List (high evidence)",
"entity_name": "P4HTM",
"entity_type": "gene"
},
{
"created": "2019-12-12T08:58:26.355012+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1331",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: p4htm has been classified as Green List (High Evidence).",
"entity_name": "P4HTM",
"entity_type": "gene"
},
{
"created": "2019-12-12T08:58:11.736135+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1330",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: P4HTM was added\ngene: P4HTM was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: P4HTM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: P4HTM were set to PMID: 25078763; 30940925\nPhenotypes for gene: P4HTM were set to Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities; OMIM #618493\nReview for gene: P4HTM was set to GREEN\nAdded comment: 12 patients from 5 families with hypotonia, intellectual disability, and eye abnormalities, and homozygous or compound heterozygous pathogenic P4HTM gene variants. Segregated with the disorder in the families. In vitro functional expression studies of 3 of the P4HTM variants showed that they caused a significant decrease in the amount of soluble protein compared to wildtype. \nSources: Literature",
"entity_name": "P4HTM",
"entity_type": "gene"
},
{
"created": "2019-12-12T08:54:16.947174+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1329",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Marked gene: PAK1 as ready",
"entity_name": "PAK1",
"entity_type": "gene"
},
{
"created": "2019-12-12T08:54:16.939681+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1329",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: pak1 has been classified as Green List (High Evidence).",
"entity_name": "PAK1",
"entity_type": "gene"
},
{
"created": "2019-12-12T08:53:49.513027+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1329",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: PAK1 as Green List (high evidence)",
"entity_name": "PAK1",
"entity_type": "gene"
},
{
"created": "2019-12-12T08:53:49.505816+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1329",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: pak1 has been classified as Green List (High Evidence).",
"entity_name": "PAK1",
"entity_type": "gene"
},
{
"created": "2019-12-12T08:53:35.372829+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1328",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: PAK1 was added\ngene: PAK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PAK1 were set to PMID: 31504246; 30290153\nPhenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay; OMIM #618158\nReview for gene: PAK1 was set to GREEN\nAdded comment: 2 unrelated individuals with de novo PAK1 mutations, with developmental delay, secondary macrocephaly, seizures, and ataxic gait. Enhanced phosphorylation of the PAK1 targets JNK and AKT shown in fibroblasts of one subject and of c-JUN in those of both subjects compared with control subjects. In fibroblasts of the 2 affected individuals, they observed a trend toward enhanced PAK1 kinase activity. By using co-immunoprecipitation and size-exclusion chromatography, they observed a significantly reduced dimerization for both PAK1 mutants compared with wild-type PAK1. \r\n\r\n4 unrelated individuals with intellectual disability, macrocephaly and seizures, with de novo heterozygous missense variants in PAK1. \nSources: Literature",
"entity_name": "PAK1",
"entity_type": "gene"
},
{
"created": "2019-12-11T23:10:48.527755+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1327",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Marked gene: PHF21A as ready",
"entity_name": "PHF21A",
"entity_type": "gene"
},
{
"created": "2019-12-11T23:10:48.520576+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1327",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: phf21a has been classified as Green List (High Evidence).",
"entity_name": "PHF21A",
"entity_type": "gene"
},
{
"created": "2019-12-11T23:10:45.678275+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1327",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: PHF21A as Green List (high evidence)",
"entity_name": "PHF21A",
"entity_type": "gene"
},
{
"created": "2019-12-11T23:10:45.670657+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1327",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: phf21a has been classified as Green List (High Evidence).",
"entity_name": "PHF21A",
"entity_type": "gene"
},
{
"created": "2019-12-11T23:10:34.015579+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1326",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: PHF21A was added\ngene: PHF21A was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: PHF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PHF21A were set to PMID: 31649809; 30487643; 22770980\nPhenotypes for gene: PHF21A were set to no OMIM number yet.\nReview for gene: PHF21A was set to GREEN\nAdded comment: 9 cases with intellectual disability and craniofacial anomalies (Potocki-Shaffer syndrome), with de novo truncating variants in PHF21A. No functional evidence of variants, but PHF21A is highly expressed in the human fetal brain, which is consistent with the neurodevelopmental phenotype.\r\n\r\n2 other unrelated individuals with translocations disrupting PHF21A. Lymphoblastoid cell lines from translocation subjects showed derepression of the neuronal gene SCN3A and reduced LSD1 occupancy at the SCN3A promoter, supporting a direct functional consequence of PHF21A haploinsufficiency on transcriptional regulation. \nSources: Literature",
"entity_name": "PHF21A",
"entity_type": "gene"
},
{
"created": "2019-12-11T22:53:28.654022+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1325",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Marked gene: PIBF1 as ready",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2019-12-11T22:53:28.646425+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1325",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: pibf1 has been classified as Green List (High Evidence).",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2019-12-11T22:52:19.176511+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1325",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: PIBF1 as Green List (high evidence)",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2019-12-11T22:52:19.168977+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1325",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: pibf1 has been classified as Green List (High Evidence).",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2019-12-11T22:52:07.273448+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1324",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: PIBF1 was added\ngene: PIBF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIBF1 were set to PubMed: 26167768; 30858804; 29695797\nPhenotypes for gene: PIBF1 were set to Joubert syndrome 33; OMIM #617767\nReview for gene: PIBF1 was set to GREEN\nAdded comment: 1 family of Schmiedeleut Hutterite descent with 2 affected brothers with Joubert syndrome had homozygous missense mutation in PIBF1 gene. Parents were heterozygous. \r\n\r\n2 other Hutterite families with 3 affected children and same homozygous missense mutation in PIBF1 gene, suggesting a founder effect. \r\n\r\n2 other unrelated individuals with compound heterozygous mutations in PIBF1 gene.\r\n\r\n1 unrelated individual with compound heterozygous variants in PIBF1 gene, and functional evidence in the frog Xenopus.\r\n\r\n1 unrelated individual with another homozygous missense mutation in PIBF1 gene, but no and functional evidence. \nSources: Literature",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2019-12-11T22:41:27.856322+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1323",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Marked gene: PIGB as ready",
"entity_name": "PIGB",
"entity_type": "gene"
},
{
"created": "2019-12-11T22:41:27.848986+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1323",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: pigb has been classified as Green List (High Evidence).",
"entity_name": "PIGB",
"entity_type": "gene"
},
{
"created": "2019-12-11T22:41:23.610087+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1323",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: PIGB as Green List (high evidence)",
"entity_name": "PIGB",
"entity_type": "gene"
},
{
"created": "2019-12-11T22:41:23.602762+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1323",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: pigb has been classified as Green List (High Evidence).",
"entity_name": "PIGB",
"entity_type": "gene"
},
{
"created": "2019-12-11T22:41:10.927005+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1322",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: PIGB was added\ngene: PIGB was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIGB were set to PubMed: 31256876\nPhenotypes for gene: PIGB were set to Epileptic encephalopathy, early infantile, 80; OMIM #618580\nReview for gene: PIGB was set to GREEN\nAdded comment: 10 unrelated families with biallelic mutations in PIGB, with global DD and/or ID, and seizures. Two had polymicrogyria, 4 had a peripheral neuropathy, and 2 had a clinical diagnosis of DOORS syndrome. Patient lymphocytes and fibroblasts showed variably decreased levels of cell surface GPI-anchored proteins, including CD16 and CD59. In vitro functional expression studies performed with some of the mutations in PIGB-null CHO cells showed that the mutant proteins were unable to fully restore expression of GPI-anchored surface proteins, consistent with a loss of function, although the mutations had variable effects. \nSources: Literature",
"entity_name": "PIGB",
"entity_type": "gene"
},
{
"created": "2019-12-11T22:36:06.882681+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1321",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Marked gene: PIGU as ready",
"entity_name": "PIGU",
"entity_type": "gene"
},
{
"created": "2019-12-11T22:36:06.874964+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1321",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: pigu has been classified as Green List (High Evidence).",
"entity_name": "PIGU",
"entity_type": "gene"
},
{
"created": "2019-12-11T22:36:03.677090+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1321",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: PIGU as Green List (high evidence)",
"entity_name": "PIGU",
"entity_type": "gene"
},
{
"created": "2019-12-11T22:36:03.669120+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1321",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: pigu has been classified as Green List (High Evidence).",
"entity_name": "PIGU",
"entity_type": "gene"
},
{
"created": "2019-12-11T22:35:50.440177+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1320",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: PIGU was added\ngene: PIGU was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: PIGU was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIGU were set to PMID: 31353022\nPhenotypes for gene: PIGU were set to Glycosylphosphatidylinositol biosynthesis defect 21; OMIM #618590\nReview for gene: PIGU was set to GREEN\nAdded comment: 5 patients from 3 unrelated families, with homozygous missense mutations in the PIGU gene. All individuals presented with global DD, severe-to-profound ID, muscular hypotonia, seizures, brain anomalies, scoliosis, and mild facial dysmorphism. Flow cytometric analysis of patient granulocytes showed a characteristic pattern, with reduced cell surface expression of CD16 and CD24. In addition, patient B cells showed increased expression of free GPI anchors determined by a specific antibody, T5. The findings suggested that PIGU mutations reduce the function of the GPI transamidase complex, leading to accumulation of free GPI anchors on the cell surface. \nSources: Literature",
"entity_name": "PIGU",
"entity_type": "gene"
},
{
"created": "2019-12-11T22:31:05.320296+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1319",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Marked gene: PISD as ready",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2019-12-11T22:31:05.312934+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1319",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: pisd has been classified as Green List (High Evidence).",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2019-12-11T22:30:17.421263+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1319",
"user_name": "chirag patel",
"item_type": "entity",
"text": "edited their review of gene: PISD: Changed publications: PMID: 31263216, 30858161",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2019-12-11T22:30:08.117028+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1319",
"user_name": "chirag patel",
"item_type": "entity",
"text": "edited their review of gene: PISD: Changed rating: GREEN",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2019-12-11T22:29:59.716977+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1319",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Publications for gene PISD were changed from PMID: 31263216; 30858161 to PMID: 31263216; 30858161",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2019-12-11T22:29:32.169041+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1318",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: PISD as Green List (high evidence)",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2019-12-11T22:29:32.161700+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1318",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: pisd has been classified as Green List (High Evidence).",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2019-12-11T22:29:07.417273+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1317",
"user_name": "chirag patel",
"item_type": "entity",
"text": "changed review comment from: 4 individuals in 2 unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature (Liberfarb syndrome). Affected individuals shared a homozygous 10-bp deletion immediately upstream of the last exon of the PISD gene. In HEK293T cells, this variant led to aberrant splicing of PISD transcripts. \nSources: Literature; to: 4 individuals in 2 unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature (Liberfarb syndrome). Affected individuals shared a homozygous 10-bp deletion immediately upstream of the last exon of the PISD gene. In HEK293T cells, this variant led to aberrant splicing of PISD transcripts. \r\n\r\n1 family with 2 sisters with congenital cataracts, short stature, and white matter changes identified compound heterozygous variants in the PISD gene. Decreased conversion of phosphatidylserine to PE in patient fibroblasts is consistent with impaired phosphatidylserine decarboxylase (PISD) enzyme activity.",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2019-12-11T22:25:23.674272+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1317",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: PISD was added\ngene: PISD was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: PISD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PISD were set to PMID: 31263216\nPhenotypes for gene: PISD were set to no OMIM number yet.\nReview for gene: PISD was set to AMBER\nAdded comment: 4 individuals in 2 unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature (Liberfarb syndrome). Affected individuals shared a homozygous 10-bp deletion immediately upstream of the last exon of the PISD gene. In HEK293T cells, this variant led to aberrant splicing of PISD transcripts. \nSources: Literature",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2019-12-11T22:21:09.973609+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1316",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Marked gene: POU3F3 as ready",
"entity_name": "POU3F3",
"entity_type": "gene"
},
{
"created": "2019-12-11T22:21:09.966218+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1316",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: pou3f3 has been classified as Green List (High Evidence).",
"entity_name": "POU3F3",
"entity_type": "gene"
},
{
"created": "2019-12-11T22:21:06.624732+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1316",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: POU3F3 as Green List (high evidence)",
"entity_name": "POU3F3",
"entity_type": "gene"
},
{
"created": "2019-12-11T22:21:06.616316+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1316",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: pou3f3 has been classified as Green List (High Evidence).",
"entity_name": "POU3F3",
"entity_type": "gene"
},
{
"created": "2019-12-11T22:19:00.704652+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1315",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: POU3F3 was added\ngene: POU3F3 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: POU3F3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POU3F3 were set to PMID: 24550763; 31303265\nPhenotypes for gene: POU3F3 were set to no OMIM number yet.\nReview for gene: POU3F3 was set to GREEN\nAdded comment: 19 individuals with DD/ID/speech issues and heterozygous POU3F3 disruptions, most of which were de novo variants. Positive functional cell-based analyses of pathogenic variants.\r\n\r\n1 patient reported with whole gene deletion and ID. \nSources: Literature",
"entity_name": "POU3F3",
"entity_type": "gene"
},
{
"created": "2019-12-11T22:14:11.738697+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1314",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: PPP2CA as Green List (high evidence)",
"entity_name": "PPP2CA",
"entity_type": "gene"
},
{
"created": "2019-12-11T22:14:11.731301+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1314",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: ppp2ca has been classified as Green List (High Evidence).",
"entity_name": "PPP2CA",
"entity_type": "gene"
},
{
"created": "2019-12-11T22:13:59.669678+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1313",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: PPP2CA was added\ngene: PPP2CA was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PPP2CA were set to PMID: 30595372\nPhenotypes for gene: PPP2CA were set to Neurodevelopmental disorder and language delay with or without structural brain abnormalities; OMIM #618354\nReview for gene: PPP2CA was set to GREEN\nAdded comment: 15 unrelated patients with a neurodevelopmental disorder with de novo heterozygous PPP2CA mutations, and 1 with partial deletion of PPP2CA. Functional studies showed complete PP2A dysfunction in 4 individuals with seemingly milder ID, hinting at haploinsufficiency. Ten other individuals showed mutation-specific biochemical distortions, including poor expression, altered binding to the A subunit and specific B-type subunits, and impaired phosphatase activity and C-terminal methylation. \nSources: Literature",
"entity_name": "PPP2CA",
"entity_type": "gene"
},
{
"created": "2019-12-11T21:18:55.581977+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNF113A as ready",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2019-12-11T21:18:55.570685+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf113a has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2019-12-11T21:18:52.342242+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNF113A as Amber List (moderate evidence)",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2019-12-11T21:18:52.334496+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf113a has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2019-12-11T21:18:19.371683+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNF113A was added\ngene: RNF113A was added to Microcephaly_VCGS. Sources: Literature\nMode of inheritance for gene: RNF113A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNF113A were set to 25612912; 31793730\nPhenotypes for gene: RNF113A were set to Trichothiodystrophy 5, nonphotosensitive; OMIM #300953\nReview for gene: RNF113A was set to AMBER\nAdded comment: 1 family of 2 male cousins with IUGR, progressive microcephaly, profound ID, genital anomalies, and severe linear growth failure, and nonsense Q301X mutation in RNF113A gene. Segregated with disease in the family. The mutation markedly reduced RNF113A protein expression in extracts from lymphoblastoid cell lines derived from the affected individuals.\r\n\r\n2 fetuses affected with abnormalities similar to previous report, with the same nonsense Q301X mutation in RNF113A gene. ?Founder effect. \nSources: Literature",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2019-12-11T21:16:36.170743+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNF113A as ready",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2019-12-11T21:16:36.163068+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf113a has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2019-12-11T21:16:28.165293+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNF113A were changed from to Trichothiodystrophy 5, nonphotosensitive; OMIM #300953",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2019-12-11T21:16:10.297378+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNF113A were set to ",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2019-12-11T21:15:55.180944+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RNF113A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2019-12-11T21:15:29.812426+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNF113A as Amber List (moderate evidence)",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2019-12-11T21:15:29.804508+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf113a has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2019-12-11T21:15:08.197074+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RNF113A: Rating: AMBER; Mode of pathogenicity: None; Publications: 25612912, 31793730; Phenotypes: Trichothiodystrophy 5, nonphotosensitive, OMIM #300953; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2019-12-11T21:13:16.486717+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNF113A as ready",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2019-12-11T21:13:16.477922+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf113a has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2019-12-11T21:12:27.365131+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PUS7 as ready",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2019-12-11T21:12:27.357918+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pus7 has been classified as Green List (High Evidence).",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2019-12-11T21:12:23.124706+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PUS7 as Green List (high evidence)",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2019-12-11T21:12:23.116186+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pus7 has been classified as Green List (High Evidence).",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2019-12-11T21:11:48.262134+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PUS7 was added\ngene: PUS7 was added to Microcephaly_VCGS. Sources: Literature\nMode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PUS7 were set to 30526862; 30778726; 31583274\nPhenotypes for gene: PUS7 were set to Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature; OMIM #618342\nAdded comment: 11 patients from 6 families with ID, speech delay, short stature, microcephaly, and aggressive behavior, with homozygous PUS7 mutations, which segregated with disease. \nSources: Literature",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2019-12-11T21:10:10.966374+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PUS7 as ready",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2019-12-11T21:10:10.959127+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pus7 has been classified as Green List (High Evidence).",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2019-12-11T21:10:01.724854+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PUS7 as Green List (high evidence)",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2019-12-11T21:10:01.716874+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pus7 has been classified as Green List (High Evidence).",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2019-12-11T21:09:42.642661+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PUS7 was added\ngene: PUS7 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PUS7 were set to 30526862; 30778726; 31583274\nPhenotypes for gene: PUS7 were set to Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature; OMIM #618342\nReview for gene: PUS7 was set to GREEN\nAdded comment: 11 patients from 6 families with ID, speech delay, short stature, microcephaly, and aggressive behavior, with homozygous PUS7 mutations, which segregated with disease. \nSources: Literature",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2019-12-11T21:07:08.242536+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PUS7 as ready",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2019-12-11T21:07:08.233869+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pus7 has been classified as Green List (High Evidence).",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2019-12-11T16:04:48.269572+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1312",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: PUS7 as Green List (high evidence)",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2019-12-11T16:04:48.260632+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1312",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: pus7 has been classified as Green List (High Evidence).",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2019-12-11T16:04:37.482167+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1311",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: PUS7 was added\ngene: PUS7 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PUS7 were set to PMID: 30526862; 30778726; 31583274\nPhenotypes for gene: PUS7 were set to Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature; OMIM #618342\nReview for gene: PUS7 was set to GREEN\nAdded comment: 11 patients from 6 families with ID, speech delay, short stature, microcephaly, and aggressive behavior, with homozygous PUS7 mutations, which segregated with disease.\r\n\r\nOne study showed disease-related variants lead to abolishment of PUS7 activity on both tRNA and mRNA substrates. pus7 knockout in Drosophila melanogaster results in a number of behavioral defects, including increased activity, disorientation, and aggressiveness supporting that neurological defects are caused by PUS7 variants. \nSources: Literature",
"entity_name": "PUS7",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:56:52.483508+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1310",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: RNF113A as Amber List (moderate evidence)",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:56:52.475984+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1310",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: rnf113a has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNF113A",
"entity_type": "gene"
},
{
"created": "2019-12-11T15:56:41.188037+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1309",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: RNF113A was added\ngene: RNF113A was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: RNF113A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: RNF113A were set to PMID: 25612912; 31793730\nPhenotypes for gene: RNF113A were set to ?Trichothiodystrophy 5, nonphotosensitive; OMIM #300953\nReview for gene: RNF113A was set to AMBER\nAdded comment: 1 family of 2 male cousins with IUGR, progressive microcephaly, profound ID, genital anomalies, and severe linear growth failure, and nonsense Q301X mutation in RNF113A gene. Segregated with disease in the family. The mutation markedly reduced RNF113A protein expression in extracts from lymphoblastoid cell lines derived from the affected individuals.\r\n\r\n2 fetuses affected with abnormalities similar to previous report, with the same nonsense Q301X mutation in RNF113A gene (can not access paper to see if from same family or functional evidence). \nSources: Literature",
"entity_name": "RNF113A",
"entity_type": "gene"
}
]
}