{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=377","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=375","results":[{"created":"2024-10-03T16:36:10.857084+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2045","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrrc7 has been classified as Green List (High Evidence).","entity_name":"LRRC7","entity_type":"gene"},{"created":"2024-10-03T16:35:51.713838+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.286","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FLVCR1 as ready","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-10-03T16:35:51.698736+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.286","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: flvcr1 has been classified as Green List (High Evidence).","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-10-03T16:35:46.126523+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2045","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LRRC7 were changed from neurodevelopmental disorder (MONDO:0700092) to neurodevelopmental disorder (MONDO:0700092), LRRC7-related","entity_name":"LRRC7","entity_type":"gene"},{"created":"2024-10-03T16:35:18.491943+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2044","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LRRC7 as Green List (high evidence)","entity_name":"LRRC7","entity_type":"gene"},{"created":"2024-10-03T16:35:18.477021+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2044","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrrc7 has been classified as Green List (High Evidence).","entity_name":"LRRC7","entity_type":"gene"},{"created":"2024-10-03T16:34:50.808723+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2043","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LRRC7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neurodevelopmental disorder (MONDO:0700092), LRRC7-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LRRC7","entity_type":"gene"},{"created":"2024-10-03T16:34:19.036622+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6315","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRRC7 as ready","entity_name":"LRRC7","entity_type":"gene"},{"created":"2024-10-03T16:34:19.026778+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6315","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrrc7 has been classified as Green List (High Evidence).","entity_name":"LRRC7","entity_type":"gene"},{"created":"2024-10-03T16:34:10.834017+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6315","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LRRC7 were changed from neurodevelopmental disorder (MONDO:0700092) to neurodevelopmental disorder (MONDO:0700092), LRRC7-related","entity_name":"LRRC7","entity_type":"gene"},{"created":"2024-10-03T16:33:10.548190+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6314","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LRRC7: Rating: GREEN; Mode of pathogenicity: None; Publications: 39256359; Phenotypes: neurodevelopmental disorder (MONDO:0700092), LRRC7-related; Mode of inheritance: None","entity_name":"LRRC7","entity_type":"gene"},{"created":"2024-10-03T16:31:59.466358+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6314","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LRRC7 as Green List (high evidence)","entity_name":"LRRC7","entity_type":"gene"},{"created":"2024-10-03T16:31:59.435871+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6314","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrrc7 has been classified as Green List (High Evidence).","entity_name":"LRRC7","entity_type":"gene"},{"created":"2024-10-03T16:30:42.108428+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.276","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPL26 as ready","entity_name":"RPL26","entity_type":"gene"},{"created":"2024-10-03T16:30:42.091917+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.276","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl26 has been classified as Green List (High Evidence).","entity_name":"RPL26","entity_type":"gene"},{"created":"2024-10-03T16:30:35.959947+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.276","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPL26 as Green List (high evidence)","entity_name":"RPL26","entity_type":"gene"},{"created":"2024-10-03T16:30:35.946157+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.276","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl26 has been classified as Green List (High Evidence).","entity_name":"RPL26","entity_type":"gene"},{"created":"2024-10-03T16:30:21.370588+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.275","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPL26 was added\ngene: RPL26 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: RPL26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPL26 were set to 22431104; 39268718\nPhenotypes for gene: RPL26 were set to Diamond-Blackfan anaemia 11, MIM# 614900\nReview for gene: RPL26 was set to GREEN\nAdded comment: Four unrelated families reported, radial ray defects are part of the phenotype. \nSources: Literature","entity_name":"RPL26","entity_type":"gene"},{"created":"2024-10-03T16:28:25.846540+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPL26 were changed from Diamond-Blackfan anemia 11, MIM# 614900 to Diamond-Blackfan anaemia 11, MIM# 614900","entity_name":"RPL26","entity_type":"gene"},{"created":"2024-10-03T16:27:46.554589+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RPL26 were set to 22431104","entity_name":"RPL26","entity_type":"gene"},{"created":"2024-10-03T16:27:09.343475+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPL26 as Green List (high evidence)","entity_name":"RPL26","entity_type":"gene"},{"created":"2024-10-03T16:27:09.312153+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl26 has been classified as Green List (High Evidence).","entity_name":"RPL26","entity_type":"gene"},{"created":"2024-10-03T16:25:59.890264+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2043","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPL26 were changed from Diamond-Blackfan anemia 11, MIM# 614900 to Diamond-Blackfan anaemia 11, MIM# 614900","entity_name":"RPL26","entity_type":"gene"},{"created":"2024-10-03T16:25:36.094109+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2042","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RPL26 were set to 22431104","entity_name":"RPL26","entity_type":"gene"},{"created":"2024-10-03T16:24:46.376190+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2041","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPL26 as Green List (high evidence)","entity_name":"RPL26","entity_type":"gene"},{"created":"2024-10-03T16:24:46.366408+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2041","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl26 has been classified as Green List (High Evidence).","entity_name":"RPL26","entity_type":"gene"},{"created":"2024-10-03T16:24:37.043678+10:00","panel_name":"Diamond Blackfan anaemia","panel_id":98,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPL26 as Green List (high evidence)","entity_name":"RPL26","entity_type":"gene"},{"created":"2024-10-03T16:24:37.027600+10:00","panel_name":"Diamond Blackfan anaemia","panel_id":98,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl26 has been classified as Green List (High Evidence).","entity_name":"RPL26","entity_type":"gene"},{"created":"2024-10-03T16:24:17.313900+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.98","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RPL26 were set to 22431104","entity_name":"RPL26","entity_type":"gene"},{"created":"2024-10-03T16:23:36.760174+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.97","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPL26 as Green List (high evidence)","entity_name":"RPL26","entity_type":"gene"},{"created":"2024-10-03T16:23:36.742515+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.97","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl26 has been classified as Green List (High Evidence).","entity_name":"RPL26","entity_type":"gene"},{"created":"2024-10-03T16:22:59.034596+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.96","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RPL26: Added comment: PMID 39268718: Additional reported cases with multiple congenital anomalies - predominantly radial ray defects Article reports five individuals from one family with an intronic variant (c.-6+3_-6+25del). The variant was shown to segregate with AD pattern across 3 generations in similarly affected individuals. Reported two other unrelated individuals with de novo variants (p.Met30Cysfs*9 and c.-5-2A>G).; Changed rating: GREEN; Changed publications: 22431104, 39268718; Changed phenotypes: Diamond-Blackfan anemia 11, MIM# 614900","entity_name":"RPL26","entity_type":"gene"},{"created":"2024-10-03T16:20:07.843740+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.26","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RPL26 were set to 22431104","entity_name":"RPL26","entity_type":"gene"},{"created":"2024-10-03T16:19:42.405552+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.25","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPL26 as Green List (high evidence)","entity_name":"RPL26","entity_type":"gene"},{"created":"2024-10-03T16:19:42.383541+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl26 has been classified as Green List (High Evidence).","entity_name":"RPL26","entity_type":"gene"},{"created":"2024-10-03T16:18:55.998161+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2040","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FLVCR1 were changed from posterior column ataxia-retinitis pigmentosa syndrome MONDO:0012177 to posterior column ataxia-retinitis pigmentosa syndrome MONDO:0012177; neurodevelopmental disorder MONDO:0700092, FLVCR1-related","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-10-03T16:17:41.201285+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.286","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FLVCR1 as ready","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-10-03T16:17:41.188034+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.286","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flvcr1 has been classified as Green List (High Evidence).","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-10-03T16:16:46.330226+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.61","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SECISBP2 as ready","entity_name":"SECISBP2","entity_type":"gene"},{"created":"2024-10-03T16:16:46.313002+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: secisbp2 has been classified as Green List (High Evidence).","entity_name":"SECISBP2","entity_type":"gene"},{"created":"2024-10-03T16:16:39.612764+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.61","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SECISBP2 as Green List (high evidence)","entity_name":"SECISBP2","entity_type":"gene"},{"created":"2024-10-03T16:16:39.599185+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: secisbp2 has been classified as Green List (High Evidence).","entity_name":"SECISBP2","entity_type":"gene"},{"created":"2024-10-03T16:15:50.044870+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.60","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SECISBP2 was added\ngene: SECISBP2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SECISBP2 were set to 39315526\nPhenotypes for gene: SECISBP2 were set to Thyroid hormone metabolism, abnormal, 1, MIM# 609698\nReview for gene: SECISBP2 was set to GREEN\nAdded comment: Four individuals reported with bi-allelic variants and ID/seizures/autism phenotype. \nSources: Literature","entity_name":"SECISBP2","entity_type":"gene"},{"created":"2024-10-03T16:13:42.200446+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6313","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SECISBP2 were changed from #609698 THYROID HORMONE METABOLISM, ABNORMAL to Thyroid hormone metabolism, abnormal, 1, MIM# 609698","entity_name":"SECISBP2","entity_type":"gene"},{"created":"2024-10-03T16:13:35.129646+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.286","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: FLVCR1 as Green List (high evidence)","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-10-03T16:13:35.111269+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.286","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: flvcr1 has been classified as Green List (High Evidence).","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-10-03T16:13:01.800794+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6312","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SECISBP2 were set to 16228000; 19602558; 21084748; 22247018","entity_name":"SECISBP2","entity_type":"gene"},{"created":"2024-10-03T16:12:17.360532+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6311","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SECISBP2 as Green List (high evidence)","entity_name":"SECISBP2","entity_type":"gene"},{"created":"2024-10-03T16:12:17.345945+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6311","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: secisbp2 has been classified as Green List (High Evidence).","entity_name":"SECISBP2","entity_type":"gene"},{"created":"2024-10-03T16:12:12.303885+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.285","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FLVCR1 was added\ngene: FLVCR1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FLVCR1 were set to 39306721\nPhenotypes for gene: FLVCR1 were set to neurodevelopmental disorder MONDO:0700092, FLVCR1-related\nReview for gene: FLVCR1 was set to GREEN\ngene: FLVCR1 was marked as current diagnostic\nAdded comment: A study with 30 patients from 23 unrelated families with biallelic ultra-rare missense and predicted loss-of-function variants in FLVCR1 with a novel FLVCR1-related phenotype characterised by severe developmental disorders with profound developmental delay, microcephaly, brain malformations, epilepsy, spasticity, and premature death. Optic disk atrophy, limb and digital malformations, and macrocytic anaemia can be present. \nSources: Literature","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-10-03T16:11:32.719975+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6310","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SECISBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 39315526; Phenotypes: Thyroid hormone metabolism, abnormal, 1, MIM# 609698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SECISBP2","entity_type":"gene"},{"created":"2024-10-03T16:10:29.979565+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NHEJ1 as ready","entity_name":"NHEJ1","entity_type":"gene"},{"created":"2024-10-03T16:10:29.952090+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nhej1 has been classified as Red List (Low Evidence).","entity_name":"NHEJ1","entity_type":"gene"},{"created":"2024-10-03T16:10:12.918997+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6310","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: FLVCR1 were changed from Ataxia, posterior column, with retinitis pigmentosa, MIM#609033 to neurodevelopmental disorder MONDO:0700092, FLVCR1-related","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-10-03T16:09:05.030492+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6309","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: FLVCR1 were set to ","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-10-03T16:08:42.258572+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2039","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NHEJ1 were changed from Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291; Cernunnos-XLF deficiency MONDO:0012650 to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291; Cernunnos-XLF deficiency MONDO:0012650; Microphthalmia/coloboma, MIM# 13 620968","entity_name":"NHEJ1","entity_type":"gene"},{"created":"2024-10-03T16:08:21.463611+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2038","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NHEJ1 were set to 30898087; 30666249; 28741180; 25288157; 24511403; 21721379; 21535335","entity_name":"NHEJ1","entity_type":"gene"},{"created":"2024-10-03T16:08:17.138511+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6308","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: FLVCR1 as Green List (high evidence)","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-10-03T16:08:17.128249+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6308","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: flvcr1 has been classified as Green List (High Evidence).","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-10-03T16:07:52.832339+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2037","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: PMID 37580330: Seven individuals from 2 consanguineous families identified with a deep intronic homozygous variant affecting the IHH enhancer within NHEJ1.; to: PMID 37580330: Seven individuals from 2 consanguineous families identified with a deep intronic homozygous variant affecting the IHH enhancer within NHEJ1 -- RED for this association.","entity_name":"NHEJ1","entity_type":"gene"},{"created":"2024-10-03T16:07:34.423542+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6307","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39306721; Phenotypes: neurodevelopmental disorder MONDO:0700092, FLVCR1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-10-03T16:07:32.522934+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2037","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NHEJ1: Added comment: PMID 37580330: Seven individuals from 2 consanguineous families identified with a deep intronic homozygous variant affecting the IHH enhancer within NHEJ1.; Changed publications: 30898087, 30666249, 28741180, 25288157, 24511403, 21721379, 21535335, 37580330; Changed phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291, Cernunnos-XLF deficiency MONDO:0012650, Microphthalmia/coloboma, MIM# 13 620968","entity_name":"NHEJ1","entity_type":"gene"},{"created":"2024-10-03T16:06:13.467006+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NHEJ1 was added\ngene: NHEJ1 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature\ndeep intronic tags were added to gene: NHEJ1.\nMode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NHEJ1 were set to 37580330\nPhenotypes for gene: NHEJ1 were set to Microphthalmia/coloboma, MIM# 13\t620968\nReview for gene: NHEJ1 was set to RED\nAdded comment: Seven individuals from 2 consanguineous families identified with a deep intronic homozygous variant affecting the IHH enhancer within NHEJ1. \nSources: Literature","entity_name":"NHEJ1","entity_type":"gene"},{"created":"2024-10-03T16:03:57.255876+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.359","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: NECTIN1: Rating: ; Mode of pathogenicity: None; Publications: 25913853, 10932188, 26953873; Phenotypes: Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NECTIN1","entity_type":"gene"},{"created":"2024-10-03T15:50:45.051547+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.359","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: NGF: Rating: GREEN; Mode of pathogenicity: None; Publications: 14976160, 20978020, 33884296, 32693191, 31685654, 30296891; Phenotypes: Neuropathy, hereditary sensory and autonomic, type V (MIM#608654); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NGF","entity_type":"gene"},{"created":"2024-10-03T15:48:17.558893+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2037","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: FLVCR1: Added comment: A study with 30 patients from 23 unrelated families with biallelic ultra-rare missense and predicted loss-of-function variants in  FLVCR1 with a novel FLVCR1-related phenotype characterised by severe developmental disorders with profound developmental delay, microcephaly, brain malformations, epilepsy, spasticity, and premature death.  Optic disk atrophy, limb and digital malformations, and macrocytic anaemia can be present.; Changed publications: 21070897, 22279524, 21267618, 39306721; Changed phenotypes: posterior column ataxia-retinitis pigmentosa syndrome MONDO:0012177, neurodevelopmental disorder MONDO:0700092, FLVCR1-related","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2024-10-03T15:46:03.858446+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.24","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: None; Publications: 39268718; Phenotypes: Diamond-Blackfan anemia MONDO:0015253; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RPL26","entity_type":"gene"},{"created":"2024-10-03T15:34:30.349710+10:00","panel_name":"Diamond Blackfan anaemia","panel_id":98,"panel_version":"1.7","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: None; Publications: 39268718; Phenotypes: Diamond-Blackfan anemia MONDO:0015253; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RPL26","entity_type":"gene"},{"created":"2024-10-03T15:34:26.956458+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.359","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: NDUFS8: Rating: GREEN; Mode of pathogenicity: None; Publications: 23430795, 36101822; Phenotypes: Mitochondrial complex I deficiency, nuclear type 2 (MIM#618222); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFS8","entity_type":"gene"},{"created":"2024-10-03T15:33:35.340870+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"1.10","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: None; Publications: 39268718; Phenotypes: Diamond-Blackfan anemia MONDO:0015253; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RPL26","entity_type":"gene"},{"created":"2024-10-03T15:32:51.731129+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2037","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: None; Publications: 39268718; Phenotypes: Diamond-Blackfan anemia MONDO:0015253; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RPL26","entity_type":"gene"},{"created":"2024-10-03T15:16:49.334718+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.359","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: SLC38A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24290379, 32744312; Phenotypes: Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis (MIM#609218); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC38A8","entity_type":"gene"},{"created":"2024-10-03T15:00:32.433420+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.359","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: TSPYL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15273283, 32885560, 33075815, 36082874; Phenotypes: Sudden infant death with dysgenesis of the testes syndrome (MIM#608800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSPYL1","entity_type":"gene"},{"created":"2024-10-03T13:32:18.020184+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6307","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: LRRC7 was added\ngene: LRRC7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: LRRC7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LRRC7 were set to 39256359\nPhenotypes for gene: LRRC7 were set to neurodevelopmental disorder (MONDO:0700092)\nReview for gene: LRRC7 was set to GREEN\nAdded comment: Well established gene-disease association. \r\nNeurodevelopmental disorder with a clinical spectrum - symptoms include ID, ADHD, aggression and in many cases, hyperphagia associate obesity.\r\nHeterozygous missense and LoF variants have been reported and functional assays were conducted on missense and truncating variants that support LoF mechanism of disease. \nSources: Literature","entity_name":"LRRC7","entity_type":"gene"},{"created":"2024-10-03T13:30:34.407217+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2037","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: LRRC7 was added\ngene: LRRC7 was added to Mendeliome. Sources: Other,Literature\nMode of inheritance for gene: LRRC7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LRRC7 were set to 39256359\nPhenotypes for gene: LRRC7 were set to neurodevelopmental disorder (MONDO:0700092)\nReview for gene: LRRC7 was set to GREEN\nAdded comment: Well established gene-disease association. \r\nNeurodevelopmental disorder with a clinical spectrum - symptoms include ID, ADHD, aggression and in many cases, hyperphagia associate obesity.\r\nHeterozygous missense and LoF variants have been reported and functional assays were conducted on missense and truncating variants that support LoF mechanism of disease. \nSources: Other, Literature","entity_name":"LRRC7","entity_type":"gene"},{"created":"2024-10-03T12:47:05.749551+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.71","user_name":"Peter McNaughton","item_type":"entity","text":"gene: IL7 was added\ngene: IL7 was added to Combined Immunodeficiency. Sources: Literature\nMode of inheritance for gene: IL7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL7 were set to PMID: 39352394\nPhenotypes for gene: IL7 were set to Combined Immune deficiency\nReview for gene: IL7 was set to GREEN\nAdded comment: 6 patients from 4 kindreds with combined immune deficiency and recurrent infections.  Extensive immunophenotyping revealing IL7 dependent and independent development of T cells. \nSources: Literature","entity_name":"IL7","entity_type":"gene"},{"created":"2024-10-03T12:23:39.695147+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6307","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: SHH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22791840, 19057928; Phenotypes: Holoprosencephaly 3 (MIM#142945); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SHH","entity_type":"gene"},{"created":"2024-10-03T12:20:00.353263+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6307","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23023332, 23103230, 24736733, 30071989; Phenotypes: Shprintzen-Goldberg syndrome, MIM# 182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SKI","entity_type":"gene"},{"created":"2024-10-03T12:18:20.853956+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6307","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10545952, 10749987, 18924171; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SCO2","entity_type":"gene"},{"created":"2024-10-03T12:10:04.569461+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.97","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: AP1S2 were changed from Pettigrew syndrome, MIM# 304340 to Pettigrew syndrome, MIM# 304340","entity_name":"AP1S2","entity_type":"gene"},{"created":"2024-10-03T12:09:08.098009+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.414","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: AP1S2 were changed from Pettigrew syndrome, MIM# 304340 to Pettigrew syndrome, MIM# 304340","entity_name":"AP1S2","entity_type":"gene"},{"created":"2024-10-03T12:09:04.635992+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.97","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: AP1S2 were changed from Pettigrew syndrome, MIM# 304340 to Pettigrew syndrome, MIM# 304340","entity_name":"AP1S2","entity_type":"gene"},{"created":"2024-10-03T12:08:25.033702+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.414","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: AP1S2 were changed from Pettigrew syndrome, MIM# 304340 to Pettigrew syndrome, MIM# 304340","entity_name":"AP1S2","entity_type":"gene"},{"created":"2024-10-03T12:08:06.932397+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.97","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5, MIM#304340 to Pettigrew syndrome, MIM# 304340","entity_name":"AP1S2","entity_type":"gene"},{"created":"2024-10-03T12:07:21.926420+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.414","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5, MIM# 304340 to Pettigrew syndrome, MIM# 304340","entity_name":"AP1S2","entity_type":"gene"},{"created":"2024-10-03T12:06:00.704570+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.4","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5, 304340 (3) to Pettigrew syndrome, MIM# 304340","entity_name":"AP1S2","entity_type":"gene"},{"created":"2024-10-03T12:05:56.859038+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.28","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5,  MIM#304340 to Pettigrew syndrome, MIM# 304340","entity_name":"AP1S2","entity_type":"gene"},{"created":"2024-10-03T12:05:52.480017+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.359","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5, 304340 (3) to Pettigrew syndrome, MIM# 304340","entity_name":"AP1S2","entity_type":"gene"},{"created":"2024-10-03T12:05:28.714400+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.71","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350); Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350); Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352)","entity_name":"GMPPB","entity_type":"gene"},{"created":"2024-10-03T12:05:10.308390+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"1.20","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350); Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350); Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352)","entity_name":"GMPPB","entity_type":"gene"},{"created":"2024-10-03T12:04:34.674651+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6307","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11313741, 31468281, 15619430, 8782044; Phenotypes: Kanzaki disease, MIM# 609242, Schindler disease, type I and type II 609241, alpha-N-acetylgalactosaminidase deficiency MONDO:0017779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NAGA","entity_type":"gene"},{"created":"2024-10-03T12:03:23.398703+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6307","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 8650226; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NAGLU","entity_type":"gene"},{"created":"2024-10-03T12:02:46.151619+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"1.20","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350); Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350); Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352)","entity_name":"GMPPB","entity_type":"gene"},{"created":"2024-10-03T12:02:46.098382+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.71","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14\t615350; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14\t615351; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14\t615352 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350); Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352)","entity_name":"GMPPB","entity_type":"gene"},{"created":"2024-10-03T12:02:46.074508+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.47","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 615351; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350); Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352)","entity_name":"GMPPB","entity_type":"gene"},{"created":"2024-10-03T12:02:26.468151+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6307","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: NALCN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25683120, 30167850, 23749988, 24075186; Phenotypes: Congenital contractures of the limbs and face, hypotonia, and developmental delay, MIM# 616266, Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, MIM # 615419; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NALCN","entity_type":"gene"},{"created":"2024-10-03T12:00:50.207497+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2037","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 615351; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350); Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352)","entity_name":"GMPPB","entity_type":"gene"},{"created":"2024-10-03T12:00:19.198425+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"1.20","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 (MIM# 615351); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350); Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352)","entity_name":"GMPPB","entity_type":"gene"},{"created":"2024-10-03T11:58:36.289848+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":"2024-10-03T11:58:08.876944+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 impaired intellectual development syndrome (MIM# 615510) to Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)","entity_name":"GMPPA","entity_type":"gene"}]}