{"count":220212,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1397","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1395","results":[{"created":"2021-03-04T16:26:35.364205+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DLK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28324015, 30462238; Phenotypes: central precocious puberty; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DLK1","entity_type":"gene"},{"created":"2021-03-04T16:23:37.836978+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3479","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DLK1 as ready","entity_name":"DLK1","entity_type":"gene"},{"created":"2021-03-04T16:23:37.830774+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3479","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Association with central precocious puberty but not ID.","entity_name":"DLK1","entity_type":"gene"},{"created":"2021-03-04T16:23:37.802512+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3479","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dlk1 has been classified as Red List (Low Evidence).","entity_name":"DLK1","entity_type":"gene"},{"created":"2021-03-04T16:23:13.996622+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3479","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DLK1 as Red List (low evidence)","entity_name":"DLK1","entity_type":"gene"},{"created":"2021-03-04T16:23:13.989326+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3479","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dlk1 has been classified as Red List (Low Evidence).","entity_name":"DLK1","entity_type":"gene"},{"created":"2021-03-04T16:22:17.152081+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3478","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DLK1 were set to PMID: 28324015","entity_name":"DLK1","entity_type":"gene"},{"created":"2021-03-04T16:21:37.705919+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3477","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DLK1 as Green List (high evidence)","entity_name":"DLK1","entity_type":"gene"},{"created":"2021-03-04T16:21:37.695793+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3477","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dlk1 has been classified as Green List (High Evidence).","entity_name":"DLK1","entity_type":"gene"},{"created":"2021-03-04T14:30:32.786955+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.197","user_name":"Natasha Brown","item_type":"entity","text":"Marked gene: MKRN3 as ready","entity_name":"MKRN3","entity_type":"gene"},{"created":"2021-03-04T14:30:32.776082+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.197","user_name":"Natasha Brown","item_type":"entity","text":"Gene: mkrn3 has been classified as Red List (Low Evidence).","entity_name":"MKRN3","entity_type":"gene"},{"created":"2021-03-04T14:29:46.105688+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.197","user_name":"Natasha Brown","item_type":"entity","text":"changed review comment from: PMID: 31687022 4 novel missense, c.1138G > A (p.Glu380Lys), c.1420T > A (p.Leu474Met), c.673C > G (p.Leu225Val), and c.1071C > G (p.Ile357Met) in two sporadic cases and three familial cases.  ACMG: (p.Glu380Lys and p.Ile357Met) = LP, but (p.Leu474Met) (p.Leu225Val) are VUS.\r\nPMID: 31636607 3 novel promotor variants found in 6 unrelated females; significant reduction of MKRN3 promoter activity using luciferase assays.\r\nPMID: 32480405 - 2 females with whole gene deletions of MKRN3 \r\nPMID: 31041429 systematic review/meta analysis: \"Patients with MKRN3 mutations presented with signs and symptoms of early reactivation of the hypothalamic-pituitary-gonadal axis, represented by precocious development of sexual characteristics, BA advancement, and pubertal levels of basal or poststimulated LH\" \nSources: Literature; to: PMID: 23738509: four (3fs; 1missense) novel heterozygous mutations in MKRN3, in 5 of the 15 families; both sexes were affected; mouse model confirms low expression.\r\nPMID: 31687022 4 novel missense, c.1138G > A (p.Glu380Lys), c.1420T > A (p.Leu474Met), c.673C > G (p.Leu225Val), and c.1071C > G (p.Ile357Met) in two sporadic cases and three familial cases.  ACMG: (p.Glu380Lys and p.Ile357Met) = LP, but (p.Leu474Met) (p.Leu225Val) are VUS.\r\nPMID: 31636607 3 novel promotor variants found in 6 unrelated females; significant reduction of MKRN3 promoter activity using luciferase assays.\r\nPMID: 32480405 - 2 females with whole gene deletions of MKRN3 \r\nPMID: 31041429 systematic review/meta analysis: \"Patients with MKRN3 mutations presented with signs and symptoms of early reactivation of the hypothalamic-pituitary-gonadal axis, represented by precocious development of sexual characteristics, BA advancement, and pubertal levels of basal or poststimulated LH\" \r\nSources: Literature","entity_name":"MKRN3","entity_type":"gene"},{"created":"2021-03-04T14:26:23.003935+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.197","user_name":"Natasha Brown","item_type":"entity","text":"gene: MKRN3 was added\ngene: MKRN3 was added to Differences of Sex Development. Sources: Literature\nMode of inheritance for gene: MKRN3 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)\nPublications for gene: MKRN3 were set to PMID: 31687022; 31041429; 31636607; 32480405\nPhenotypes for gene: MKRN3 were set to central precocious puberty\nPenetrance for gene: MKRN3 were set to unknown\nReview for gene: MKRN3 was set to GREEN\nAdded comment: PMID: 31687022 4 novel missense, c.1138G > A (p.Glu380Lys), c.1420T > A (p.Leu474Met), c.673C > G (p.Leu225Val), and c.1071C > G (p.Ile357Met) in two sporadic cases and three familial cases.  ACMG: (p.Glu380Lys and p.Ile357Met) = LP, but (p.Leu474Met) (p.Leu225Val) are VUS.\r\nPMID: 31636607 3 novel promotor variants found in 6 unrelated females; significant reduction of MKRN3 promoter activity using luciferase assays.\r\nPMID: 32480405 - 2 females with whole gene deletions of MKRN3 \r\nPMID: 31041429 systematic review/meta analysis: \"Patients with MKRN3 mutations presented with signs and symptoms of early reactivation of the hypothalamic-pituitary-gonadal axis, represented by precocious development of sexual characteristics, BA advancement, and pubertal levels of basal or poststimulated LH\" \nSources: Literature","entity_name":"MKRN3","entity_type":"gene"},{"created":"2021-03-04T14:07:56.032709+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.196","user_name":"Natasha Brown","item_type":"entity","text":"gene: DLK1 was added\ngene: DLK1 was added to Differences of Sex Development. Sources: Literature\nMode of inheritance for gene: DLK1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)\nPenetrance for gene: DLK1 were set to unknown","entity_name":"DLK1","entity_type":"gene"},{"created":"2021-03-04T14:04:56.101951+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3476","user_name":"Natasha Brown","item_type":"entity","text":"reviewed gene: DLK1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28324015, PMID: 30462238; Phenotypes: central precocious puberty; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)","entity_name":"DLK1","entity_type":"gene"},{"created":"2021-03-04T13:59:46.700136+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3476","user_name":"Natasha Brown","item_type":"entity","text":"Source Genetic Health Queensland was removed from DLK1.\nSource Literature was added to DLK1.\nMode of inheritance for gene DLK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)\nPhenotypes for gene: DLK1 were changed from  to central precocious puberty\nPenetrance for gene DLK1 was set from to None\nPublications for gene DLK1 were changed from PMID: 28324015 to PMID: 28324015","entity_name":"DLK1","entity_type":"gene"},{"created":"2021-03-04T13:56:11.875125+11:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"1.1","user_name":"Chirag Patel","item_type":"entity","text":"gene: ACSL5 was added\ngene: ACSL5 was added to Fatty Acid Oxidation Defects. Sources: Literature\nMode of inheritance for gene: ACSL5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACSL5 were set to PMID: 33191500\nPhenotypes for gene: ACSL5 were set to severe FTT (no OMIM #)\nReview for gene: ACSL5 was set to RED\nAdded comment: 6 individuals of a large consanguineous family presented in the neonatal period with recurrent vomiting and diarrhea, leading to severe FTT. Autozygosity mapping and WES identified homozygous variant (c.1358C>A:p.(Thr453Lys) in ACSL5. Segregated with affected individuals. \r\n\r\nFunctional in vitro analysis of the ACSL5 variant by immunofluorescence, western blotting and enzyme assay suggested that Thr453Lys is a loss‐of‐function mutation without any remaining activity. \r\n\r\nAffected individuals were treated with total parenteral nutrition or medium‐chain triglyceride‐based formula restricted in long‐chain triglycerides. They responded well and follow up suggests that treatment is only required during early life. \nSources: Literature","entity_name":"ACSL5","entity_type":"gene"},{"created":"2021-03-04T11:54:54.257054+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6539","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: GDF5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33333243; Phenotypes: Type A1C brachydactyly (MIM#615072), Type A2 brachydactyly, (MIM#112600), Type C brachydactyly (MIM#113100), Grebe type chondrodysplasia (MIM#200700), Du Pan syndrome (MIM#228900), Multiple synostoses syndrome 2 (MIM#610017), Proximal Symphalangism 1B (MIM#615298); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"GDF5","entity_type":"gene"},{"created":"2021-03-04T11:31:55.417843+11:00","panel_name":"Pain syndromes","panel_id":3126,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: DST as ready","entity_name":"DST","entity_type":"gene"},{"created":"2021-03-04T11:31:55.407772+11:00","panel_name":"Pain syndromes","panel_id":3126,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dst has been classified as Green List (High Evidence).","entity_name":"DST","entity_type":"gene"},{"created":"2021-03-04T11:31:51.944460+11:00","panel_name":"Pain syndromes","panel_id":3126,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DST as Green List (high evidence)","entity_name":"DST","entity_type":"gene"},{"created":"2021-03-04T11:31:51.932678+11:00","panel_name":"Pain syndromes","panel_id":3126,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dst has been classified as Green List (High Evidence).","entity_name":"DST","entity_type":"gene"},{"created":"2021-03-04T11:31:44.514011+11:00","panel_name":"Pain syndromes","panel_id":3126,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DST was added\ngene: DST was added to Pain syndromes. Sources: Other\nMode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DST were set to 28468842; 32528525; 22522446; 30371979\nPhenotypes for gene: DST were set to Neuropathy, hereditary sensory and autonomic, type VI MIM#614653\nReview for gene: DST was set to GREEN\ngene: DST was marked as current diagnostic\nAdded comment: At least 4 unrelated families reported with pain insensitivity as a feature of the condition. \nSources: Other","entity_name":"DST","entity_type":"gene"},{"created":"2021-03-04T08:01:30.226176+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6539","user_name":"Eleanor Williams","item_type":"entity","text":"reviewed gene: KIDINS220: Rating: AMBER; Mode of pathogenicity: None; Publications: 33205811, 28934391, 22048169; Phenotypes: cerebral ventriculomegaly, limb contractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-03-04T00:58:14.216684+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6539","user_name":"Eleanor Williams","item_type":"entity","text":"reviewed gene: MYO15A: Rating: ; Mode of pathogenicity: None; Publications: 33078831; Phenotypes: Deafness, autosomal recessive 3 OMIM:600316, autosomal recessive nonsyndromic deafness 3 MONDO:0010860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MYO15A","entity_type":"gene"},{"created":"2021-03-03T23:50:29.466413+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6539","user_name":"Eleanor Williams","item_type":"entity","text":"reviewed gene: MYO3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 33078831, 26841241, 29880844; Phenotypes: Deafness, autosomal recessive 30 OMIM:607101, autosomal recessive nonsyndromic deafness 30 MONDO:0011774; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MYO3A","entity_type":"gene"},{"created":"2021-03-03T23:28:18.272413+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6539","user_name":"Eleanor Williams","item_type":"entity","text":"reviewed gene: COL9A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33078831, 15917166; Phenotypes: autosomal recessive non-syndromic hearing impairment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COL9A3","entity_type":"gene"},{"created":"2021-03-03T18:39:22.588835+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.525","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EIF5A as ready","entity_name":"EIF5A","entity_type":"gene"},{"created":"2021-03-03T18:39:22.577768+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.525","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif5a has been classified as Green List (High Evidence).","entity_name":"EIF5A","entity_type":"gene"},{"created":"2021-03-03T18:39:16.563771+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.525","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EIF5A as Green List (high evidence)","entity_name":"EIF5A","entity_type":"gene"},{"created":"2021-03-03T18:39:16.556445+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.525","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif5a has been classified as Green List (High Evidence).","entity_name":"EIF5A","entity_type":"gene"},{"created":"2021-03-03T18:38:47.809804+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.524","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EIF5A was added\ngene: EIF5A was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: EIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EIF5A were set to 33547280\nPhenotypes for gene: EIF5A were set to Intellectual disability; microcephaly; dysmorphism\nReview for gene: EIF5A was set to GREEN\nAdded comment: 7 unrelated individuals reported with de novo variants in this gene and variable combinations of developmental delay, microcephaly, micrognathia and dysmorphism. \nSources: Literature","entity_name":"EIF5A","entity_type":"gene"},{"created":"2021-03-03T18:37:46.075243+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3475","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EIF5A as ready","entity_name":"EIF5A","entity_type":"gene"},{"created":"2021-03-03T18:37:46.065122+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3475","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif5a has been classified as Green List (High Evidence).","entity_name":"EIF5A","entity_type":"gene"},{"created":"2021-03-03T18:37:40.415737+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3475","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EIF5A as Green List (high evidence)","entity_name":"EIF5A","entity_type":"gene"},{"created":"2021-03-03T18:37:40.405504+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3475","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif5a has been classified as Green List (High Evidence).","entity_name":"EIF5A","entity_type":"gene"},{"created":"2021-03-03T18:35:52.427543+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3474","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EIF5A was added\ngene: EIF5A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: EIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EIF5A were set to 33547280\nPhenotypes for gene: EIF5A were set to Intellectual disability; microcephaly; dysmorphism\nReview for gene: EIF5A was set to GREEN\nAdded comment: 7 unrelated individuals reported with de novo variants in this gene and variable combinations of developmental delay, microcephaly, micrognathia and dysmorphism. \nSources: Literature","entity_name":"EIF5A","entity_type":"gene"},{"created":"2021-03-03T18:35:00.987919+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6539","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EIF5A as ready","entity_name":"EIF5A","entity_type":"gene"},{"created":"2021-03-03T18:35:00.979896+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6539","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif5a has been classified as Green List (High Evidence).","entity_name":"EIF5A","entity_type":"gene"},{"created":"2021-03-03T18:34:47.890022+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6539","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EIF5A as Green List (high evidence)","entity_name":"EIF5A","entity_type":"gene"},{"created":"2021-03-03T18:34:47.878540+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6539","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif5a has been classified as Green List (High Evidence).","entity_name":"EIF5A","entity_type":"gene"},{"created":"2021-03-03T18:34:13.543518+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6538","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EIF5A was added\ngene: EIF5A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EIF5A were set to 33547280\nPhenotypes for gene: EIF5A were set to Intellectual disability; microcephaly; dysmorphism\nReview for gene: EIF5A was set to GREEN\nAdded comment: 7 unrelated individuals reported with de novo variants in this gene and variable combinations of developmental delay, microcephaly, micrognathia and dysmorphism. \nSources: Literature","entity_name":"EIF5A","entity_type":"gene"},{"created":"2021-03-03T18:29:04.425281+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3473","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLRMT as ready","entity_name":"POLRMT","entity_type":"gene"},{"created":"2021-03-03T18:29:04.417163+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3473","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polrmt has been classified as Green List (High Evidence).","entity_name":"POLRMT","entity_type":"gene"},{"created":"2021-03-03T18:28:52.049611+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3473","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POLRMT as Green List (high evidence)","entity_name":"POLRMT","entity_type":"gene"},{"created":"2021-03-03T18:28:52.039245+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3473","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polrmt has been classified as Green List (High Evidence).","entity_name":"POLRMT","entity_type":"gene"},{"created":"2021-03-03T18:28:16.863630+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3472","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POLRMT was added\ngene: POLRMT was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: POLRMT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: POLRMT were set to 33602924\nPhenotypes for gene: POLRMT were set to Mitochondrial disorder; intellectual disability; hypotonia\nReview for gene: POLRMT was set to GREEN\nAdded comment: 8 individuals from 7 families reported. 5 families with bi-allelic variants and 2 with heterozygous variants. Affected individuals presented with global developmental delay, hypotonia, short stature, and speech/intellectual disability in childhood; one subject displayed an indolent progressive external ophthalmoplegia phenotype. \nSources: Literature","entity_name":"POLRMT","entity_type":"gene"},{"created":"2021-03-03T18:27:43.577967+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6537","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLRMT as ready","entity_name":"POLRMT","entity_type":"gene"},{"created":"2021-03-03T18:27:43.567188+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6537","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polrmt has been classified as Green List (High Evidence).","entity_name":"POLRMT","entity_type":"gene"},{"created":"2021-03-03T18:27:26.482612+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6537","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POLRMT as Green List (high evidence)","entity_name":"POLRMT","entity_type":"gene"},{"created":"2021-03-03T18:27:26.468866+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6537","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polrmt has been classified as Green List (High Evidence).","entity_name":"POLRMT","entity_type":"gene"},{"created":"2021-03-03T18:26:38.133328+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6536","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POLRMT was added\ngene: POLRMT was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: POLRMT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: POLRMT were set to 33602924\nPhenotypes for gene: POLRMT were set to Mitochondrial disorder; intellectual disability; hypotonia\nReview for gene: POLRMT was set to GREEN\nAdded comment: 8 individuals from 7 families reported. 5 families with bi-allelic variants and 2 with heterozygous variants. Affected individuals presented with global developmental delay, hypotonia, short stature, and speech/intellectual disability in childhood; one subject displayed an indolent progressive external ophthalmoplegia phenotype. \nSources: Literature","entity_name":"POLRMT","entity_type":"gene"},{"created":"2021-03-03T18:25:13.266039+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.581","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLRMT as ready","entity_name":"POLRMT","entity_type":"gene"},{"created":"2021-03-03T18:25:13.255522+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.581","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polrmt has been classified as Green List (High Evidence).","entity_name":"POLRMT","entity_type":"gene"},{"created":"2021-03-03T18:25:08.861402+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.581","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POLRMT were set to ","entity_name":"POLRMT","entity_type":"gene"},{"created":"2021-03-03T18:24:38.057611+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.580","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POLRMT as Green List (high evidence)","entity_name":"POLRMT","entity_type":"gene"},{"created":"2021-03-03T18:24:38.045883+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.580","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polrmt has been classified as Green List (High Evidence).","entity_name":"POLRMT","entity_type":"gene"},{"created":"2021-03-03T18:24:06.472431+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.579","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: POLRMT: Changed publications: 33602924","entity_name":"POLRMT","entity_type":"gene"},{"created":"2021-03-03T18:24:01.326858+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.579","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POLRMT was added\ngene: POLRMT was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: POLRMT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: POLRMT were set to Mitochondrial disorder; intellectual disability; hypotonia\nReview for gene: POLRMT was set to GREEN\nAdded comment: 8 individuals from 7 families reported. 5 families with bi-allelic variants and 2 with heterozygous variants. Affected individuals presented with global developmental delay, hypotonia, short stature, and speech/intellectual disability in childhood; one subject displayed an indolent progressive external ophthalmoplegia phenotype. \nSources: Literature","entity_name":"POLRMT","entity_type":"gene"},{"created":"2021-03-03T17:43:20.431933+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.195","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYP19A1 as ready","entity_name":"CYP19A1","entity_type":"gene"},{"created":"2021-03-03T17:43:20.420480+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.195","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyp19a1 has been classified as Green List (High Evidence).","entity_name":"CYP19A1","entity_type":"gene"},{"created":"2021-03-03T17:43:17.988774+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.195","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CYP19A1 were changed from  to Aromatase deficiency (MIM#613546), AR; Aromatase excess syndrome (MIM#139300), AD","entity_name":"CYP19A1","entity_type":"gene"},{"created":"2021-03-03T17:42:48.807953+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CYP19A1 were set to ","entity_name":"CYP19A1","entity_type":"gene"},{"created":"2021-03-03T17:42:18.956725+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.193","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CYP19A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CYP19A1","entity_type":"gene"},{"created":"2021-03-03T17:41:51.198590+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.192","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: CYP19A1.","entity_name":"CYP19A1","entity_type":"gene"},{"created":"2021-03-03T17:26:20.812467+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.192","user_name":"Teresa Zhao","item_type":"entity","text":"reviewed gene: CYP19A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17164303, 25264451; Phenotypes: Aromatase deficiency (MIM#613546), AR, Aromatase excess syndrome (MIM#139300), AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CYP19A1","entity_type":"gene"},{"created":"2021-03-03T13:46:18.788305+11:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PERP were changed from Erythrokeratoderma, no OMIM # yet to Olmsted syndrome 2, MIM# 619208; Erythrokeratodermia variabilis et progressiva 7, MIM# 619209","entity_name":"PERP","entity_type":"gene"},{"created":"2021-03-03T13:45:37.802524+11:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PERP were set to PMID: 31898316","entity_name":"PERP","entity_type":"gene"},{"created":"2021-03-03T13:45:05.298515+11:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PERP was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PERP","entity_type":"gene"},{"created":"2021-03-03T13:44:36.812040+11:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PERP as Green List (high evidence)","entity_name":"PERP","entity_type":"gene"},{"created":"2021-03-03T13:44:36.801226+11:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: perp has been classified as Green List (High Evidence).","entity_name":"PERP","entity_type":"gene"},{"created":"2021-03-03T13:44:05.951078+11:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"PERP","entity_type":"gene"},{"created":"2021-03-03T13:44:02.746801+11:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PERP: Added comment: Four families reported with heterozygous variants and Olmsted syndrome-2 (OLMS2), which is characterised by mutilating hyperkeratotic skin lesions, primarily on the palms and soles, but also extending onto dorsal surfaces of the hands and feet and distal extremities. The lesions are progressive, becoming thicker with verrucous fissures on the palms and soles over time. In addition, affected individuals exhibit perioral hyperkeratosis, and may have lesions around other orifices as well, such as the nostrils, perineum, and anus. Most patients also have hyperkeratotic nails and light-colored woolly hair. Two families reported with bi-allelic variants and Erythrokeratodermia variabilis et progressiva-7 (EKVP7), which is characterised by palmoplantar keratoderma that extends to the dorsal surface of the hands and feet (transgrediens), as well as erythematous annular skin lesions. Pruritis, woolly hair, and dystrophic nails may also be present.; Changed rating: GREEN; Changed publications: 31898316, 30321533, 31361044; Changed phenotypes: Olmsted syndrome 2, MIM# 619208, Erythrokeratodermia variabilis et progressiva 7, MIM# 619209; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PERP","entity_type":"gene"},{"created":"2021-03-03T13:39:12.941245+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6535","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PERP were changed from Erythrokeratoderma, no OMIM # yet to Olmsted syndrome 2, MIM# 619208; Erythrokeratodermia variabilis et progressiva 7, MIM# 619209","entity_name":"PERP","entity_type":"gene"},{"created":"2021-03-03T13:38:49.520065+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6534","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PERP were set to 31898316","entity_name":"PERP","entity_type":"gene"},{"created":"2021-03-03T13:38:24.714204+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6533","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PERP was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PERP","entity_type":"gene"},{"created":"2021-03-03T13:38:06.188157+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6532","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PERP as Green List (high evidence)","entity_name":"PERP","entity_type":"gene"},{"created":"2021-03-03T13:38:06.180006+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6532","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: perp has been classified as Green List (High Evidence).","entity_name":"PERP","entity_type":"gene"},{"created":"2021-03-03T13:37:39.476916+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6531","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PERP: Added comment: Four families reported with heterozygous variants and Olmsted syndrome-2 (OLMS2), which is characterised by mutilating hyperkeratotic skin lesions, primarily on the palms and soles, but also extending onto dorsal surfaces of the hands and feet and distal extremities. The lesions are progressive, becoming thicker with verrucous fissures on the palms and soles over time. In addition, affected individuals exhibit perioral hyperkeratosis, and may have lesions around other orifices as well, such as the nostrils, perineum, and anus. Most patients also have hyperkeratotic nails and light-colored woolly hair.\r\n\r\nTwo families reported with bi-allelic variants and Erythrokeratodermia variabilis et progressiva-7 (EKVP7), which is characterised by palmoplantar keratoderma that extends to the dorsal surface of the hands and feet (transgrediens), as well as erythematous annular skin lesions. Pruritis, woolly hair, and dystrophic nails may also be present.; Changed rating: GREEN; Changed publications: 31898316, 30321533, 31361044; Changed phenotypes: Olmsted syndrome 2, MIM# 619208, Erythrokeratodermia variabilis et progressiva 7, MIM# 619209; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PERP","entity_type":"gene"},{"created":"2021-03-03T13:20:19.920561+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6531","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KARS: Changed phenotypes: Leukoencephalopathy with or without deafness (LEPID), MIM#619147, Deafness, autosomal recessive 89, MIM# 613916, Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196","entity_name":"KARS","entity_type":"gene"},{"created":"2021-03-03T13:19:44.320818+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6531","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KARS were changed from Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Deafness, autosomal recessive 89, MIM# 613916 to Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Deafness, autosomal recessive 89, MIM# 613916; Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196","entity_name":"KARS","entity_type":"gene"},{"created":"2021-03-03T13:18:53.904712+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.53","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KARS were changed from Deafness, autosomal recessive 89, MIM#\t613916 to Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196; Deafness, autosomal recessive 89, MIM#\t613916","entity_name":"KARS","entity_type":"gene"},{"created":"2021-03-03T13:18:13.291768+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.52","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KARS: Changed phenotypes: Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196","entity_name":"KARS","entity_type":"gene"},{"created":"2021-03-03T13:17:57.075432+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.52","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KARS","entity_type":"gene"},{"created":"2021-03-03T13:17:02.945675+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6530","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KARS as ready","entity_name":"KARS","entity_type":"gene"},{"created":"2021-03-03T13:17:02.934290+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6530","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kars has been classified as Green List (High Evidence).","entity_name":"KARS","entity_type":"gene"},{"created":"2021-03-03T13:16:49.266276+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6530","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KARS were changed from  to Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Deafness, autosomal recessive 89, MIM# 613916","entity_name":"KARS","entity_type":"gene"},{"created":"2021-03-03T13:16:26.554851+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6529","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KARS were set to ","entity_name":"KARS","entity_type":"gene"},{"created":"2021-03-03T13:16:05.789370+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6528","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"KARS","entity_type":"gene"},{"created":"2021-03-03T13:15:39.263210+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6527","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 26741492, 31618474, 28887846, 25330800, 29615062, 30252186, 28496994, 23768514, 14975237; Phenotypes: Leukoencephalopathy with or without deafness (LEPID), MIM#619147, Deafness, autosomal recessive 89, MIM# 613916; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KARS","entity_type":"gene"},{"created":"2021-03-03T13:13:41.828223+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3471","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KARS were changed from Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Combined mitochondrial oxidative phosphorylation deficiency; epilepsy; intellectual disability; microcephaly to Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Combined mitochondrial oxidative phosphorylation deficiency; epilepsy; intellectual disability; microcephaly","entity_name":"KARS","entity_type":"gene"},{"created":"2021-03-03T13:13:22.598131+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3471","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KARS were changed from Combined mitochondrial oxidative phosphorylation deficiency; epilepsy; intellectual disability; microcephaly to Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Combined mitochondrial oxidative phosphorylation deficiency; epilepsy; intellectual disability; microcephaly","entity_name":"KARS","entity_type":"gene"},{"created":"2021-03-03T13:12:40.944195+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3470","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KARS: Changed phenotypes: Leukoencephalopathy with or without deafness (LEPID), MIM#619147, Combined mitochondrial oxidative phosphorylation deficiency, epilepsy, intellectual disability, microcephaly","entity_name":"KARS","entity_type":"gene"},{"created":"2021-03-03T13:11:54.462681+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.213","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KARS were changed from Deafness, autosomal recessive 89, MIM#\t613916; Leukodystrophy to Leukoencephalopathy with or without deafness (LEPID), MIM#619147","entity_name":"KARS","entity_type":"gene"},{"created":"2021-03-03T13:11:29.779211+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KARS","entity_type":"gene"},{"created":"2021-03-03T13:10:25.572034+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.578","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: APOO as ready","entity_name":"APOO","entity_type":"gene"},{"created":"2021-03-03T13:10:25.564383+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.578","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: apoo has been classified as Amber List (Moderate Evidence).","entity_name":"APOO","entity_type":"gene"},{"created":"2021-03-03T13:10:17.983698+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.578","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: APOO as Amber List (moderate evidence)","entity_name":"APOO","entity_type":"gene"},{"created":"2021-03-03T13:10:17.941415+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.578","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: apoo has been classified as Amber List (Moderate Evidence).","entity_name":"APOO","entity_type":"gene"},{"created":"2021-03-03T13:09:44.619096+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.577","user_name":"Zornitza Stark","item_type":"entity","text":"gene: APOO was added\ngene: APOO was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: APOO was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: APOO were set to 32439808\nPhenotypes for gene: APOO were set to Developmental delay; Lactic acidosis; Muscle weakness; Hypotonia; Repetitive infections; Cognitive impairment; Autistic behaviour\nReview for gene: APOO was set to AMBER\nAdded comment: - PMID: 32439808 (2021) - Three generation family with c.350T>C variant in APOO, encoding a component of the MICOS complex which plays a role in maintaining inner mitochondrial membrane architecture. \r\nPhenotypes include fatigue and muscle weakness (6/8), learning difficulties and cognitive impairment (4/8), and increased blood lactate (2/8). Four individuals were asymptomatic carriers, including one male (authors indicate variability in female carriers was due to skewed X-inactivation, although skewing studies were inconclusive in some cases). Variability in clinical presentation suggests reduced penetrance or possible contribution of additional factors. \r\nFunctional studies showed altered MICOS assembly and abnormalities in mitochondria ultrastructure in patient-derived fibroblasts. Knockdown studies in Drosophila and yeast demonstrated mitochondrial structural and functional deficiencies. \nSources: Literature","entity_name":"APOO","entity_type":"gene"}]}