{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=378","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=376","results":[{"created":"2024-10-03T11:57:24.661656+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.46","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: GMPPA were changed from Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510) to Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)","entity_name":"GMPPA","entity_type":"gene"},{"created":"2024-10-03T11:57:02.861275+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.59","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: GMPPA were changed from Alacrima, achalasia, and mental retardation syndrome (MIM# 615510) to Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)","entity_name":"GMPPA","entity_type":"gene"},{"created":"2024-10-03T11:56:49.202991+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.46","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: GMPPA were changed from Alacrima, achalasia, and mental retardation syndrome (MIM# 615510) to Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)","entity_name":"GMPPA","entity_type":"gene"},{"created":"2024-10-03T11:55:57.503056+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.274","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: GMPPA were changed from Alacrima, achalasia, and mental retardation syndrome (MIM# 615510) to Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)","entity_name":"GMPPA","entity_type":"gene"},{"created":"2024-10-03T11:55:38.169767+10:00","panel_name":"Autonomic neuropathy","panel_id":3439,"panel_version":"0.51","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: GMPPA were changed from # 615510 ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR to Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)","entity_name":"GMPPA","entity_type":"gene"},{"created":"2024-10-03T11:55:33.851225+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2036","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: GMPPA were changed from Alacrima, achalasia, and mental retardation syndrome, MIM# 615510 to Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)","entity_name":"GMPPA","entity_type":"gene"},{"created":"2024-10-03T11:50:52.952066+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.277","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: USP9X were changed from Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968 to Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968","entity_name":"USP9X","entity_type":"gene"},{"created":"2024-10-03T11:50:35.474779+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.286","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: USP9X were changed from intellectual disability, X-linked 99 MONDO:0010487 to Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968","entity_name":"USP9X","entity_type":"gene"},{"created":"2024-10-03T11:50:19.300348+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.277","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: USP9X were changed from Mental retardation, X-linked 99, syndromic, female-restricted, MIM#\t300968 to Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968","entity_name":"USP9X","entity_type":"gene"},{"created":"2024-10-03T11:49:50.568692+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.273","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: USP9X were changed from Mental retardation, X-linked 99, XLR (MIM#300919) and XLD (MIM#300968) to Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968","entity_name":"USP9X","entity_type":"gene"},{"created":"2024-10-03T11:49:48.625365+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6307","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: USP9X were changed from Mental retardation, X-linked 99, XLR (MIM#300919) and XLD (MIM#300968) to Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968","entity_name":"USP9X","entity_type":"gene"},{"created":"2024-10-03T11:49:45.658999+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.358","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: USP9X were changed from Intellectual developmental disorder, X-linked 99, MIM#300919 to Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968","entity_name":"USP9X","entity_type":"gene"},{"created":"2024-10-03T11:49:44.717948+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.3","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: USP9X were changed from Mental retardation, X-linked 99, 300919 (3) to Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968","entity_name":"USP9X","entity_type":"gene"},{"created":"2024-10-03T11:49:26.459014+10:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"1.6","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: USP9X were changed from Mental retardation, X-linked 99, syndromic, female-restricted MIM#300968; MONDO:0010502 to Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968","entity_name":"USP9X","entity_type":"gene"},{"created":"2024-10-03T11:49:23.262272+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.257","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: USP9X were changed from Mental retardation, X-linked 99 300919 XLR; Mental retardation, X-linked 99, syndromic, female-restricted 300968 to Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968","entity_name":"USP9X","entity_type":"gene"},{"created":"2024-10-03T11:49:13.371862+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2035","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: USP9X were changed from Mental retardation, X-linked 99, XLR (MIM#300919) and XLD (MIM#300968) to Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968","entity_name":"USP9X","entity_type":"gene"},{"created":"2024-10-03T11:47:11.564686+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"1.7","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: IL7R were changed from severe combined immunodeficiency 104 MIM#608971 to severe combined immunodeficiency 104 MIM#608971","entity_name":"IL7R","entity_type":"gene"},{"created":"2024-10-03T11:46:46.779165+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"1.7","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: IL7R were changed from Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971; low T-cell numbers; normal-high B and NK-cell numbers; fever; rash; failure to thrive; recurrent respiratory and gastric infections; Hepatomegaly; Splenomegaly; diarrhoea; lymphadenopathy; pneumonitis; Pancytopaenia; decreased immunoglobulins to severe combined immunodeficiency 104 MIM#608971","entity_name":"IL7R","entity_type":"gene"},{"created":"2024-10-03T11:46:20.109743+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.71","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: IL7R were changed from Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971; fever; rash; failure to thrive; recurrent respiratory and gastric infections; diarrhoea; lymphadenopathy; pneumonitis; Pancytopaenia; low T-cell numbers; decreased immunoglobulins; normal-high B/NK-cell numbers. to severe combined immunodeficiency 104 MIM#608971","entity_name":"IL7R","entity_type":"gene"},{"created":"2024-10-03T11:46:03.467959+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.2","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: IL7R were changed from Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3) to severe combined immunodeficiency 104 MIM#608971","entity_name":"IL7R","entity_type":"gene"},{"created":"2024-10-03T11:46:02.419901+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.357","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: IL7R were changed from Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3) to severe combined immunodeficiency 104 MIM#608971","entity_name":"IL7R","entity_type":"gene"},{"created":"2024-10-03T11:45:49.403104+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2034","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: IL7R were changed from Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971; fever; rash; failure to thrive; recurrent respiratory and gastric infections; diarrhoea; lymphadenopathy; pneumonitis; Pancytopaenia; low T-cell numbers; decreased immunoglobulins; normal-high B/NK-cell numbers. to severe combined immunodeficiency 104 MIM#608971","entity_name":"IL7R","entity_type":"gene"},{"created":"2024-10-03T11:42:06.879285+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6306","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: SGPL1 were changed from Sphingosine Phosphate Lyase Insufficiency Syndrome; RENI syndrome (MIM#617575) to Sphingosine Phosphate Lyase Insufficiency Syndrome; RENI syndrome (MIM#617575)","entity_name":"SGPL1","entity_type":"gene"},{"created":"2024-10-03T11:42:03.143155+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.228","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: SGPL1 were changed from RENI syndrome (MIM#617575) to RENI syndrome (MIM#617575)","entity_name":"SGPL1","entity_type":"gene"},{"created":"2024-10-03T11:41:41.703184+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.70","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: SGPL1 were changed from Sphingosine Phosphate Lyase Insufficiency Syndrome; RENI syndrome (MIM#617575) to Sphingosine Phosphate Lyase Insufficiency Syndrome; RENI syndrome (MIM#617575)","entity_name":"SGPL1","entity_type":"gene"},{"created":"2024-10-03T11:41:18.669816+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.321","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: SGPL1 were changed from Sphingosine Phosphate Lyase Insufficiency Syndrome; RENI syndrome (MIM#617575) to Sphingosine Phosphate Lyase Insufficiency Syndrome; RENI syndrome (MIM#617575)","entity_name":"SGPL1","entity_type":"gene"},{"created":"2024-10-03T11:40:58.197332+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.70","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: SGPL1 were changed from Sphingosine Phosphate Lyase Insufficiency Syndrome; Nephrotic syndrome, type 14, MIM#617575 to Sphingosine Phosphate Lyase Insufficiency Syndrome; RENI syndrome (MIM#617575)","entity_name":"SGPL1","entity_type":"gene"},{"created":"2024-10-03T11:40:55.175358+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.228","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: SGPL1 were changed from Nephrotic syndrome, type 14, MIM# 617575 to RENI syndrome (MIM#617575)","entity_name":"SGPL1","entity_type":"gene"},{"created":"2024-10-03T11:40:46.450505+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6305","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: SGPL1 were changed from Sphingosine Phosphate Lyase Insufficiency Syndrome; Nephrotic syndrome, type 14, MIM#617575 to Sphingosine Phosphate Lyase Insufficiency Syndrome; RENI syndrome (MIM#617575)","entity_name":"SGPL1","entity_type":"gene"},{"created":"2024-10-03T11:40:24.711693+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6304","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: NDUFA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29506883, 19185523, 17262856, 21596602; Phenotypes: Mitochondrial complex I deficiency, nuclear type 12 MIM#301020; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"NDUFA1","entity_type":"gene"},{"created":"2024-10-03T11:40:22.811033+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.321","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: SGPL1 were changed from Sphingosine Phosphate Lyase Insufficiency Syndrome; Nephrotic syndrome, type 14, MIM#617575 to Sphingosine Phosphate Lyase Insufficiency Syndrome; RENI syndrome (MIM#617575)","entity_name":"SGPL1","entity_type":"gene"},{"created":"2024-10-03T11:40:14.404627+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.17","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: SGPL1 were changed from Nephrotic syndrome, type 14\t(MIM#617575) to RENI syndrome (MIM#617575)","entity_name":"SGPL1","entity_type":"gene"},{"created":"2024-10-03T11:40:06.377011+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.199","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: SGPL1 were changed from Nephrotic syndrome, type 14, MIM#\t617575 to RENI syndrome (MIM#617575)","entity_name":"SGPL1","entity_type":"gene"},{"created":"2024-10-03T11:39:53.659072+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.356","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: SGPL1 were changed from Nephrotic syndrome 14, 617575 (3), Autosomal recessive to RENI syndrome (MIM#617575)","entity_name":"SGPL1","entity_type":"gene"},{"created":"2024-10-03T11:39:53.500312+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.272","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: SGPL1 were changed from Sphingosine Phosphate Lyase Insufficiency Syndrome; Nephrotic syndrome, type 14, MIM#617575 to Sphingosine Phosphate Lyase Insufficiency Syndrome; RENI syndrome (MIM#617575)","entity_name":"SGPL1","entity_type":"gene"},{"created":"2024-10-03T11:39:40.505454+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.295","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: SGPL1 were changed from Nephrotic syndrome, type 14\t(MIM#617575) to RENI syndrome (MIM#617575)","entity_name":"SGPL1","entity_type":"gene"},{"created":"2024-10-03T11:38:56.253860+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2033","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: SGPL1 were changed from  to RENI syndrome (MIM#617575)","entity_name":"SGPL1","entity_type":"gene"},{"created":"2024-10-03T11:38:00.558359+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6304","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: NDUFS7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22644603; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3 (MIM# 618224); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFS7","entity_type":"gene"},{"created":"2024-10-03T11:36:55.862260+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6304","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: NDUFS8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23430795, 9837812, 15159508, 22499348, 20818383, 20819849; Phenotypes: Mitochondrial complex I deficiency, nuclear type 2 MIM#618222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFS8","entity_type":"gene"},{"created":"2024-10-03T11:35:48.820740+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6304","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: NDUFV1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34807224; Phenotypes: Mitochondrial complex I deficiency, nuclear type 4 MIM#618225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFV1","entity_type":"gene"},{"created":"2024-10-03T11:34:24.884588+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6304","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: NEU1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 8985184, 9054950, 11063730; Phenotypes: Sialidosis, type I and type II, MIM# 256550, MONDO:0009738; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NEU1","entity_type":"gene"},{"created":"2024-10-03T11:32:55.644375+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6304","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: NFIX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33034087, 29897170, 30548146, 25118028; Phenotypes: Sotos syndrome 2 (MIM#614753), Marshall-Smith syndrome, MIM# 602535; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NFIX","entity_type":"gene"},{"created":"2024-10-03T11:31:32.959396+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6304","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: NGLY1: Rating: GREEN; Mode of pathogenicity: None; Publications: Congenital disorder of deglycosylation (OMIM 615273); Phenotypes: PMID: 24651605, 27388694, 32259258; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NGLY1","entity_type":"gene"},{"created":"2024-10-03T11:29:34.748932+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6304","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10931427, 27066577, 26839702, 26103969, 23911641, 11854319, 24714694; Phenotypes: Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978, Chorea, hereditary benign MIM#118700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NKX2-1","entity_type":"gene"},{"created":"2024-10-03T11:29:13.552523+10:00","panel_name":"Overgrowth","panel_id":151,"panel_version":"1.14","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: PPP2R5D were changed from Houge-Janssens syndrome 1, MIM#616355 to Houge-Janssens syndrome 1, MIM#616355","entity_name":"PPP2R5D","entity_type":"gene"},{"created":"2024-10-03T11:29:06.698544+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.148","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: PPP2R5D were changed from Houge-Janssens syndrome 1, MIM#616355 to Houge-Janssens syndrome 1, MIM#616355","entity_name":"PPP2R5D","entity_type":"gene"},{"created":"2024-10-03T11:28:53.133213+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.10","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: PPP2R5D were changed from Early onset Parkinsonism; Houge-Janssens syndrome 1, MIM#616355 to Early onset Parkinsonism; Houge-Janssens syndrome 1, MIM#616355","entity_name":"PPP2R5D","entity_type":"gene"},{"created":"2024-10-03T11:28:17.631973+10:00","panel_name":"Overgrowth","panel_id":151,"panel_version":"1.13","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: PPP2R5D were changed from Mental retardation, autosomal dominant 35, MIM# 616355 to Houge-Janssens syndrome 1, MIM#616355","entity_name":"PPP2R5D","entity_type":"gene"},{"created":"2024-10-03T11:28:12.029701+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.10","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: PPP2R5D were changed from Early onset Parkinsonism; Mental retardation, autosomal dominant 35, MIM#\t616355 to Early onset Parkinsonism; Houge-Janssens syndrome 1, MIM#616355","entity_name":"PPP2R5D","entity_type":"gene"},{"created":"2024-10-03T11:28:12.010982+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6304","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: PPP2R5D were changed from Mental retardation, autosomal dominant 35, MIM#616355 to Houge-Janssens syndrome 1, MIM#616355","entity_name":"PPP2R5D","entity_type":"gene"},{"created":"2024-10-03T11:27:39.778841+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.147","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: PPP2R5D were changed from Mental retardation, autosomal dominant 35, MIM# 616355 to Houge-Janssens syndrome 1, MIM#616355","entity_name":"PPP2R5D","entity_type":"gene"},{"created":"2024-10-03T11:26:59.090857+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.271","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: PPP2R5D were changed from Mental retardation, autosomal dominant 35, MIM#616355 to Houge-Janssens syndrome 1, MIM#616355","entity_name":"PPP2R5D","entity_type":"gene"},{"created":"2024-10-03T11:26:43.587886+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6303","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 9211849, 11333381; Phenotypes: Niemann-Pick disease, type C1 and type D, MIM# 257220, MONDO:0009757; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPC1","entity_type":"gene"},{"created":"2024-10-03T11:26:33.957924+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2032","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: PPP2R5D were changed from Mental retardation, autosomal dominant 35, MIM#616355 to Houge-Janssens syndrome 1, MIM#616355","entity_name":"PPP2R5D","entity_type":"gene"},{"created":"2024-10-03T11:26:25.088950+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6303","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11125141, 17470133; Phenotypes: Niemann-pick disease, type C2, MIM# 607625, MONDO:0011873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPC2","entity_type":"gene"},{"created":"2024-10-03T11:23:29.130436+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6303","user_name":"Chirag Patel","item_type":"entity","text":"commented on gene: MTHFR: Well-established gene-disease association (see OMIM entry). Homocystinuria due to MTHFR deficiency is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders) and is an inborn error of folate metabolism. DD/ID can be seen in condition.","entity_name":"MTHFR","entity_type":"gene"},{"created":"2024-10-03T11:23:28.706269+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6303","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: MTHFR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27604308, 7920641; Phenotypes: Homocystinuria due to MTHFR deficiency MIM#236250, Disorders of folate metabolism and transport; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MTHFR","entity_type":"gene"},{"created":"2024-10-03T11:22:37.215100+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6303","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: MYO5A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32275080, 22711375, 25283056; Phenotypes: Griscelli syndrome, type 1 MIM#214450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MYO5A","entity_type":"gene"},{"created":"2024-10-03T11:22:31.779532+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6303","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: RAB27A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"RAB27A","entity_type":"gene"},{"created":"2024-10-03T11:17:27.897767+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6303","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29047407, 26409462; Phenotypes: Hyper-IgD syndrome (MIM#260920), Mevalonic aciduria (MIM#610377); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MVK","entity_type":"gene"},{"created":"2024-10-03T11:15:49.193513+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6303","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: MTFMT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21907147, 23499752, 24461907, 22499348; Phenotypes: Combined oxidative phosphorylation deficiency 15, MIM# 614947, Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MTFMT","entity_type":"gene"},{"created":"2024-10-03T11:14:50.958778+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6303","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: MRPS22: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29566152,17873122, 25663021, 28752220; Phenotypes: Combined oxidative phosphorylation deficiency 5 MIM#611719, Ovarian dysgenesis 7 MIM#618117; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MRPS22","entity_type":"gene"},{"created":"2024-10-03T11:12:29.822491+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2031","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: ATAD2B as ready","entity_name":"ATAD2B","entity_type":"gene"},{"created":"2024-10-03T11:12:29.797563+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2031","user_name":"Ain Roesley","item_type":"entity","text":"Gene: atad2b has been classified as Amber List (Moderate Evidence).","entity_name":"ATAD2B","entity_type":"gene"},{"created":"2024-10-03T11:12:17.316425+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2031","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: ATAD2B as Amber List (moderate evidence)","entity_name":"ATAD2B","entity_type":"gene"},{"created":"2024-10-03T11:12:17.296869+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2031","user_name":"Ain Roesley","item_type":"entity","text":"Gene: atad2b has been classified as Amber List (Moderate Evidence).","entity_name":"ATAD2B","entity_type":"gene"},{"created":"2024-10-03T11:12:15.008667+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6303","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: MOCS2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27604308, 10053004; Phenotypes: Molybdenum cofactor deficiency B MIM#252160, Disorders of molybdenum cofactor metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MOCS2","entity_type":"gene"},{"created":"2024-10-03T11:11:57.508761+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2030","user_name":"Ain Roesley","item_type":"entity","text":"gene: ATAD2B was added\ngene: ATAD2B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ATAD2B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATAD2B were set to 39313616\nPhenotypes for gene: ATAD2B were set to neurodevelopmental disorder MONDO:0700092, ATAD2B-related\nReview for gene: ATAD2B was set to AMBER\ngene: ATAD2B was marked as current diagnostic\nAdded comment: 3 families including 2 siblings\r\n1 fam is hom for a highly conserved missense\r\n\r\nAmber because of the lack of specific phenotypes:\r\nAbnormality of the nervous system and Abnormality of the eye \nSources: Literature","entity_name":"ATAD2B","entity_type":"gene"},{"created":"2024-10-03T11:10:58.317338+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6303","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: MUT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301409, 37420116, 1977311, 11528502, 12948746; Phenotypes: Methylmalonic aciduria, mut(0) type, MIM# 251000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MUT","entity_type":"gene"},{"created":"2024-10-03T11:09:58.419036+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6303","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: MMADHC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301409, 37420116,27604308, 18385497; Phenotypes: Homocystinuria, cblD type, variant 1 MIM#277410, Methylmalonic aciduria and homocystinuria, cblD type MIM#277410, Methylmalonic aciduria, cblD type, variant 2 MIM#277410, Disorders of cobalamin absorption, transport and metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MMADHC","entity_type":"gene"},{"created":"2024-10-03T11:09:06.920651+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6303","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: MMAB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301409, 37420116; Phenotypes: Methylmalonic aciduria, vitamin B12-responsive, cblB type, MIM# 251110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MMAB","entity_type":"gene"},{"created":"2024-10-03T11:08:39.417972+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6303","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: MMAA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301409, 37420116; Phenotypes: Methylmalonic aciduria, vitamin B12-responsive, cblA type, MIM# 251100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MMAA","entity_type":"gene"},{"created":"2024-10-03T11:02:58.399322+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2029","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: ZDHHC16 as Amber List (moderate evidence)","entity_name":"ZDHHC16","entity_type":"gene"},{"created":"2024-10-03T11:02:58.383399+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2029","user_name":"Ain Roesley","item_type":"entity","text":"Gene: zdhhc16 has been classified as Amber List (Moderate Evidence).","entity_name":"ZDHHC16","entity_type":"gene"},{"created":"2024-10-03T10:56:56.386180+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6303","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: MLC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11254442, 18757878, 16652334; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts (MIM#604004); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MLC1","entity_type":"gene"},{"created":"2024-10-03T10:56:17.992452+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6303","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17377820, 24886560, 19776033, 33193692, 27570071, 27377014, 18327255, 24608809; Phenotypes: Joubert syndrome 28, MIM# 617121, MONDO:0014928, Meckel syndrome 1, MIM# 249000, MONDO:0009571, Bardet-Biedl syndrome 13, MIM# 615990, MONDO:0014441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MKS1","entity_type":"gene"},{"created":"2024-10-03T10:54:42.430160+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6303","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10973251, 10802661, 26900326; Phenotypes: McKusick-Kaufman syndrome, MIM# 236700, Bardet-Biedl syndrome 6, MIM# 605231, Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MKKS","entity_type":"gene"},{"created":"2024-10-03T10:52:18.900431+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6303","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: MBOAT7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33335874, 32645526, 32744787, 31852446, 31282596, 30701556; Phenotypes: Intellectual disability MIM#617188; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MBOAT7","entity_type":"gene"},{"created":"2024-10-03T10:49:49.121599+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6303","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: MAT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27604308, 7560086; Phenotypes: Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MIM#250850, Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850, Disorders of the metabolism of sulphur amino acids; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MAT1A","entity_type":"gene"},{"created":"2024-10-03T10:48:00.921481+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6303","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: MAP2K2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20358587, 16439621, 18042262; Phenotypes: Cardiofaciocutaneous syndrome 3, MIM# 615279; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAP2K2","entity_type":"gene"},{"created":"2024-10-03T10:47:08.873175+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6303","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 16439621, 17551924, 18042262, 20301365; Phenotypes: Cardiofaciocutaneous syndrome 3, MIM# 615279; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAP2K1","entity_type":"gene"},{"created":"2024-10-03T10:46:05.718770+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.40","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: ZDHHC16 as Amber List (moderate evidence)","entity_name":"ZDHHC16","entity_type":"gene"},{"created":"2024-10-03T10:46:05.699106+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.40","user_name":"Ain Roesley","item_type":"entity","text":"Gene: zdhhc16 has been classified as Amber List (Moderate Evidence).","entity_name":"ZDHHC16","entity_type":"gene"},{"created":"2024-10-03T10:45:51.192000+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6303","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: ZDHHC16 as Amber List (moderate evidence)","entity_name":"ZDHHC16","entity_type":"gene"},{"created":"2024-10-03T10:45:51.173597+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6303","user_name":"Ain Roesley","item_type":"entity","text":"Gene: zdhhc16 has been classified as Amber List (Moderate Evidence).","entity_name":"ZDHHC16","entity_type":"gene"},{"created":"2024-10-03T10:45:14.430594+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.39","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: ZDHHC16 as ready","entity_name":"ZDHHC16","entity_type":"gene"},{"created":"2024-10-03T10:45:14.408124+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.39","user_name":"Ain Roesley","item_type":"entity","text":"Gene: zdhhc16 has been classified as Amber List (Moderate Evidence).","entity_name":"ZDHHC16","entity_type":"gene"},{"created":"2024-10-03T10:45:05.277499+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6303","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: ZDHHC16 as ready","entity_name":"ZDHHC16","entity_type":"gene"},{"created":"2024-10-03T10:45:05.259046+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6303","user_name":"Ain Roesley","item_type":"entity","text":"Gene: zdhhc16 has been classified as Amber List (Moderate Evidence).","entity_name":"ZDHHC16","entity_type":"gene"},{"created":"2024-10-03T10:44:55.844561+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.39","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: ZDHHC16 as Amber List (moderate evidence)","entity_name":"ZDHHC16","entity_type":"gene"},{"created":"2024-10-03T10:44:55.828238+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.39","user_name":"Ain Roesley","item_type":"entity","text":"Gene: zdhhc16 has been classified as Amber List (Moderate Evidence).","entity_name":"ZDHHC16","entity_type":"gene"},{"created":"2024-10-03T10:44:51.673034+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6303","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: ZDHHC16 as Amber List (moderate evidence)","entity_name":"ZDHHC16","entity_type":"gene"},{"created":"2024-10-03T10:44:51.642698+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6303","user_name":"Ain Roesley","item_type":"entity","text":"Gene: zdhhc16 has been classified as Amber List (Moderate Evidence).","entity_name":"ZDHHC16","entity_type":"gene"},{"created":"2024-10-03T10:42:50.172735+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.562","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: ZDHHC16 as ready","entity_name":"ZDHHC16","entity_type":"gene"},{"created":"2024-10-03T10:42:50.159721+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.562","user_name":"Ain Roesley","item_type":"entity","text":"Gene: zdhhc16 has been classified as Amber List (Moderate Evidence).","entity_name":"ZDHHC16","entity_type":"gene"},{"created":"2024-10-03T10:42:27.182461+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.562","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: ZDHHC16 as Amber List (moderate evidence)","entity_name":"ZDHHC16","entity_type":"gene"},{"created":"2024-10-03T10:42:27.166019+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.562","user_name":"Ain Roesley","item_type":"entity","text":"Gene: zdhhc16 has been classified as Amber List (Moderate Evidence).","entity_name":"ZDHHC16","entity_type":"gene"},{"created":"2024-10-03T10:42:24.865426+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6302","user_name":"Ain Roesley","item_type":"entity","text":"gene: ZDHHC16 was added\ngene: ZDHHC16 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ZDHHC16 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZDHHC16 were set to 39313616\nPhenotypes for gene: ZDHHC16 were set to neurodevelopmental disorder MONDO:0700092, ZDHHC16-related\nReview for gene: ZDHHC16 was set to AMBER\ngene: ZDHHC16 was marked as current diagnostic\nAdded comment: 6 families including a pair of siblings\r\n\r\nAmber because 5 of the families had non specific phenotypes listed\r\nAbnormality of: \r\n the nervous system, metabolism/homeostasis, head/neck,  immune system, the integument,\tthe digestive system,  the respiratory system, the endocrine system,\tGrowth abnormality\t the skeletal system, the musculature,  the eye\r\n\r\nSpecific HPOs were provided for one individual (homoyzygous for a canonical splice)\r\n\r\nAbnormality of the face; Cerebellar hypoplasia; Developmental regression; Encephalopathy; Hyperreflexia; Hypertonia; Hypotonia; Inguinal hernia; Laryngomalacia; Microcephaly; Motor delay; Optic atrophy; Seizure; Spastic paraparesis; Spasticity; Talipes equinovarus; Umbilical hernia \nSources: Literature","entity_name":"ZDHHC16","entity_type":"gene"},{"created":"2024-10-03T10:41:50.264310+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.38","user_name":"Ain Roesley","item_type":"entity","text":"gene: ZDHHC16 was added\ngene: ZDHHC16 was added to Optic Atrophy. Sources: Literature\nMode of inheritance for gene: ZDHHC16 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZDHHC16 were set to 39313616\nPhenotypes for gene: ZDHHC16 were set to neurodevelopmental disorder MONDO:0700092, ZDHHC16-related\nReview for gene: ZDHHC16 was set to AMBER\ngene: ZDHHC16 was marked as current diagnostic\nAdded comment: 6 families including a pair of siblings\r\n\r\nAmber because 5 of the families had non specific phenotypes listed\r\nAbnormality of: \r\n the nervous system, metabolism/homeostasis, head/neck,  immune system, the integument,\tthe digestive system,  the respiratory system, the endocrine system,\tGrowth abnormality\t the skeletal system, the musculature,  the eye\r\n\r\nSpecific HPOs were provided for one individual (homoyzygous for a canonical splice)\r\n\r\nAbnormality of the face; Cerebellar hypoplasia; Developmental regression; Encephalopathy; Hyperreflexia; Hypertonia; Hypotonia; Inguinal hernia; Laryngomalacia; Microcephaly; Motor delay; Optic atrophy; Seizure; Spastic paraparesis; Spasticity; Talipes equinovarus; Umbilical hernia \nSources: Literature","entity_name":"ZDHHC16","entity_type":"gene"},{"created":"2024-10-03T10:41:10.790927+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.561","user_name":"Ain Roesley","item_type":"entity","text":"gene: ZDHHC16 was added\ngene: ZDHHC16 was added to Regression. Sources: Literature\nMode of inheritance for gene: ZDHHC16 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZDHHC16 were set to 39313616\nPhenotypes for gene: ZDHHC16 were set to neurodevelopmental disorder MONDO:0700092, ZDHHC16-related\nReview for gene: ZDHHC16 was set to AMBER\ngene: ZDHHC16 was marked as current diagnostic\nAdded comment: 6 families including a pair of siblings\r\n\r\nAmber because 5 of the families had non specific phenotypes listed\r\nAbnormality of: \r\n the nervous system, metabolism/homeostasis, head/neck,  immune system, the integument,\tthe digestive system,  the respiratory system, the endocrine system,\tGrowth abnormality\t the skeletal system, the musculature,  the eye\r\n\r\nSpecific HPOs were provided for one individual (homoyzygous for a canonical splice)\r\n\r\nAbnormality of the face; Cerebellar hypoplasia; Developmental regression; Encephalopathy; Hyperreflexia; Hypertonia; Hypotonia; Inguinal hernia; Laryngomalacia; Microcephaly; Motor delay; Optic atrophy; Seizure; Spastic paraparesis; Spasticity; Talipes equinovarus; Umbilical hernia \nSources: Literature","entity_name":"ZDHHC16","entity_type":"gene"}]}