{"count":220451,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=779","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=777","results":[{"created":"2022-08-17T16:44:12.394926+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: PGK1.","entity_name":"PGK1","entity_type":"gene"},{"created":"2022-08-17T16:44:01.026967+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Phosphoglycerate kinase 1 deficiency (MIM#300653); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PGK1","entity_type":"gene"},{"created":"2022-08-17T16:40:56.115184+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDHA1 were changed from Pyruvate dehydrogenase E1-alpha deficiency to Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170)","entity_name":"PDHA1","entity_type":"gene"},{"created":"2022-08-17T16:40:45.379795+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PDHA1 were set to ","entity_name":"PDHA1","entity_type":"gene"},{"created":"2022-08-17T16:40:33.387266+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: PDHA1.","entity_name":"PDHA1","entity_type":"gene"},{"created":"2022-08-17T16:40:24.661436+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PDHA1","entity_type":"gene"},{"created":"2022-08-17T16:36:38.578650+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: KCNQ1.","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2022-08-17T16:35:31.197029+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OCA2 as ready","entity_name":"OCA2","entity_type":"gene"},{"created":"2022-08-17T16:35:31.188509+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: oca2 has been classified as Red List (Low Evidence).","entity_name":"OCA2","entity_type":"gene"},{"created":"2022-08-17T16:35:27.423662+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OCA2 were changed from Albinism, brown oculocutaneous, 203200 (3) to Albinism, oculocutaneous, type II (MIM#203200)","entity_name":"OCA2","entity_type":"gene"},{"created":"2022-08-17T16:35:08.224191+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: OCA2 as Red List (low evidence)","entity_name":"OCA2","entity_type":"gene"},{"created":"2022-08-17T16:35:08.216219+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: oca2 has been classified as Red List (Low Evidence).","entity_name":"OCA2","entity_type":"gene"},{"created":"2022-08-17T16:34:58.568663+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: OCA2.","entity_name":"OCA2","entity_type":"gene"},{"created":"2022-08-17T16:34:48.336981+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: OCA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, oculocutaneous, type II (MIM#203200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"OCA2","entity_type":"gene"},{"created":"2022-08-17T16:32:53.986620+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NEB as ready","entity_name":"NEB","entity_type":"gene"},{"created":"2022-08-17T16:32:53.974237+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: neb has been classified as Green List (High Evidence).","entity_name":"NEB","entity_type":"gene"},{"created":"2022-08-17T16:32:50.176373+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NEB were changed from Nemaline myopathy 2, autosomal recessive, 256030 (3) to Arthrogryposis multiplex congenita 6 (MIM#619334); Nemaline myopathy 2, autosomal recessive (MIM#256030)","entity_name":"NEB","entity_type":"gene"},{"created":"2022-08-17T16:32:36.307462+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NEB were set to ","entity_name":"NEB","entity_type":"gene"},{"created":"2022-08-17T16:32:20.771944+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MPZ as ready","entity_name":"MPZ","entity_type":"gene"},{"created":"2022-08-17T16:32:20.758813+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpz has been classified as Green List (High Evidence).","entity_name":"MPZ","entity_type":"gene"},{"created":"2022-08-17T16:32:14.300730+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MPZ were set to ","entity_name":"MPZ","entity_type":"gene"},{"created":"2022-08-17T16:32:01.296022+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: MPZ.","entity_name":"MPZ","entity_type":"gene"},{"created":"2022-08-17T16:31:11.395697+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: NEB.","entity_name":"NEB","entity_type":"gene"},{"created":"2022-08-17T16:31:02.633979+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis multiplex congenita 6 (MIM#619334), Nemaline myopathy 2, autosomal recessive (MIM#256030); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NEB","entity_type":"gene"},{"created":"2022-08-17T16:29:15.965784+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LDLR as ready","entity_name":"LDLR","entity_type":"gene"},{"created":"2022-08-17T16:29:15.957612+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ldlr has been classified as Green List (High Evidence).","entity_name":"LDLR","entity_type":"gene"},{"created":"2022-08-17T16:29:05.819931+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: More than 3 families reported with biallelic variants.; to: More than 3 families reported with biallelic variants. Childhood/congenital onset.","entity_name":"MPZ","entity_type":"gene"},{"created":"2022-08-17T16:28:12.064885+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MPZ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dejerine-Sottas disease, MIM#145900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MPZ","entity_type":"gene"},{"created":"2022-08-17T16:24:35.172997+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: LDLR.","entity_name":"LDLR","entity_type":"gene"},{"created":"2022-08-17T16:24:26.214141+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolaemia, familial, 1 143890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LDLR","entity_type":"gene"},{"created":"2022-08-17T16:21:38.511391+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IGHM as ready","entity_name":"IGHM","entity_type":"gene"},{"created":"2022-08-17T16:21:38.499050+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ighm has been classified as Green List (High Evidence).","entity_name":"IGHM","entity_type":"gene"},{"created":"2022-08-17T16:20:55.566847+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNQ1 as ready","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2022-08-17T16:20:55.555312+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnq1 has been classified as Green List (High Evidence).","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2022-08-17T16:20:51.422260+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IGHM were changed from Agammaglobulinemia 1, 601495 (3) to Agammaglobulinaemia 1, 601495 (3)","entity_name":"IGHM","entity_type":"gene"},{"created":"2022-08-17T16:20:39.924731+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IGHM were set to ","entity_name":"IGHM","entity_type":"gene"},{"created":"2022-08-17T16:20:28.486650+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNQ1 were set to ","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2022-08-17T16:20:11.775456+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Jervell and Lange-Nielsen syndrome (MIM#220400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2022-08-17T16:17:05.018580+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IGHM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 1 (MIM#601495); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IGHM","entity_type":"gene"},{"created":"2022-08-17T14:15:46.937266+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4895","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADAR as ready","entity_name":"ADAR","entity_type":"gene"},{"created":"2022-08-17T14:15:46.924579+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4895","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adar has been classified as Green List (High Evidence).","entity_name":"ADAR","entity_type":"gene"},{"created":"2022-08-17T14:15:41.299435+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4895","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADAR were changed from  to Aicardi-Goutieres syndrome 6, MIM# 615010","entity_name":"ADAR","entity_type":"gene"},{"created":"2022-08-17T14:14:56.617973+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4894","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ADAR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ADAR","entity_type":"gene"},{"created":"2022-08-17T14:14:25.868614+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4893","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 6, MIM# 615010; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ADAR","entity_type":"gene"},{"created":"2022-08-17T14:10:17.548225+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4893","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACTG1 as ready","entity_name":"ACTG1","entity_type":"gene"},{"created":"2022-08-17T14:10:17.539475+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4893","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: actg1 has been classified as Green List (High Evidence).","entity_name":"ACTG1","entity_type":"gene"},{"created":"2022-08-17T14:10:02.910333+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4893","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACTG1 were changed from  to Baraitser-Winter syndrome 2, MIM#614583","entity_name":"ACTG1","entity_type":"gene"},{"created":"2022-08-17T14:09:30.436903+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4892","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACTG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTG1","entity_type":"gene"},{"created":"2022-08-17T14:08:58.110821+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4891","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACTG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Baraitser-Winter syndrome 2, MIM#614583; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTG1","entity_type":"gene"},{"created":"2022-08-17T14:02:24.465770+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4891","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACTB as ready","entity_name":"ACTB","entity_type":"gene"},{"created":"2022-08-17T14:02:24.454095+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4891","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: actb has been classified as Green List (High Evidence).","entity_name":"ACTB","entity_type":"gene"},{"created":"2022-08-17T14:02:20.085136+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4891","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACTB were changed from  to Baraitser-Winter syndrome 1, MIM# 243310; ACTB-related neurodevelopment disorder","entity_name":"ACTB","entity_type":"gene"},{"created":"2022-08-17T14:01:45.234568+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4890","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACTB were set to ","entity_name":"ACTB","entity_type":"gene"},{"created":"2022-08-17T14:01:13.027451+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4889","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACTB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTB","entity_type":"gene"},{"created":"2022-08-17T14:00:41.467188+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4888","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: 29220674; Phenotypes: Baraitser-Winter syndrome 1 243310, ACTB-related neurodevelopment disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTB","entity_type":"gene"},{"created":"2022-08-17T13:57:02.098182+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.492","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACO2 as ready","entity_name":"ACO2","entity_type":"gene"},{"created":"2022-08-17T13:57:02.072464+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.492","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aco2 has been classified as Green List (High Evidence).","entity_name":"ACO2","entity_type":"gene"},{"created":"2022-08-17T13:56:52.045629+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.492","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACO2 were changed from  to Infantile cerebellar-retinal degeneration, MIM#614559","entity_name":"ACO2","entity_type":"gene"},{"created":"2022-08-17T13:56:22.702396+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.491","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACO2 were set to ","entity_name":"ACO2","entity_type":"gene"},{"created":"2022-08-17T13:55:54.572732+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.490","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACO2","entity_type":"gene"},{"created":"2022-08-17T13:54:57.835723+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.489","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22405087, 25351951, 30689204, 32519519, 25351951; Phenotypes: Infantile cerebellar-retinal degeneration, MIM#614559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACO2","entity_type":"gene"},{"created":"2022-08-17T13:53:17.460412+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4888","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACO2 as ready","entity_name":"ACO2","entity_type":"gene"},{"created":"2022-08-17T13:53:17.446994+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4888","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aco2 has been classified as Green List (High Evidence).","entity_name":"ACO2","entity_type":"gene"},{"created":"2022-08-17T13:52:53.433292+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4888","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACO2 were changed from  to Infantile cerebellar-retinal degeneration, MIM#614559","entity_name":"ACO2","entity_type":"gene"},{"created":"2022-08-17T13:52:22.690602+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4887","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACO2 were set to ","entity_name":"ACO2","entity_type":"gene"},{"created":"2022-08-17T13:51:52.960886+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4886","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACO2","entity_type":"gene"},{"created":"2022-08-17T13:51:20.363876+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4885","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22405087, 25351951, 30689204, 32519519, 25351951; Phenotypes: Infantile cerebellar-retinal degeneration, MIM#614559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACO2","entity_type":"gene"},{"created":"2022-08-17T13:48:17.472115+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4885","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABCD1 as ready","entity_name":"ABCD1","entity_type":"gene"},{"created":"2022-08-17T13:48:17.463868+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4885","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcd1 has been classified as Green List (High Evidence).","entity_name":"ABCD1","entity_type":"gene"},{"created":"2022-08-17T13:47:26.431980+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4885","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABCD1 were changed from  to Adrenoleukodystrophy, MIM# 300100","entity_name":"ABCD1","entity_type":"gene"},{"created":"2022-08-17T13:46:53.789656+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4884","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ABCD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ABCD1","entity_type":"gene"},{"created":"2022-08-17T13:46:23.248542+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4883","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenoleukodystrophy, MIM# 300100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ABCD1","entity_type":"gene"},{"created":"2022-08-16T19:20:08.671813+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4883","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACADS as ready","entity_name":"ACADS","entity_type":"gene"},{"created":"2022-08-16T19:20:08.659720+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4883","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acads has been classified as Green List (High Evidence).","entity_name":"ACADS","entity_type":"gene"},{"created":"2022-08-16T19:20:04.159959+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4883","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACADS were changed from  to Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470","entity_name":"ACADS","entity_type":"gene"},{"created":"2022-08-16T19:19:35.835275+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4882","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACADS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACADS","entity_type":"gene"},{"created":"2022-08-16T19:19:05.525752+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4881","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACADS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACADS","entity_type":"gene"},{"created":"2022-08-16T19:17:28.501306+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4881","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACADM as ready","entity_name":"ACADM","entity_type":"gene"},{"created":"2022-08-16T19:17:28.493395+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4881","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acadm has been classified as Green List (High Evidence).","entity_name":"ACADM","entity_type":"gene"},{"created":"2022-08-16T19:17:24.465949+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4881","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACADM were changed from  to Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450","entity_name":"ACADM","entity_type":"gene"},{"created":"2022-08-16T19:16:46.474529+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4880","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACADM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACADM","entity_type":"gene"},{"created":"2022-08-16T19:16:17.295934+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4879","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACADM","entity_type":"gene"},{"created":"2022-08-15T20:15:18.293328+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4879","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PAX5 were changed from neurodevelopmental disorder MONDO:0700092 to Neurodevelopmental disorder MONDO:0700092, PAX5-related; Hypogammaglobulinaemia","entity_name":"PAX5","entity_type":"gene"},{"created":"2022-08-15T20:14:48.007075+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4878","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PAX5 were set to 35094443; 31452935; 28263302; 25418537; 8001127; 27626380","entity_name":"PAX5","entity_type":"gene"},{"created":"2022-08-15T20:14:16.639190+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4877","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PAX5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PAX5","entity_type":"gene"},{"created":"2022-08-15T20:13:45.322781+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4876","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PAX5: Rating: AMBER; Mode of pathogenicity: None; Publications: 35947077; Phenotypes: Neurodevelopmental disorder MONDO:0700092, PAX5-related, Hypogammaglobulinaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PAX5","entity_type":"gene"},{"created":"2022-08-15T20:12:50.834761+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.245","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PAX5 were changed from Neurodevelopmental disorder MONDO:0700092, PAX5-related to Neurodevelopmental disorder MONDO:0700092, PAX5-related; Hypogammaglobulinaemia","entity_name":"PAX5","entity_type":"gene"},{"created":"2022-08-15T20:12:31.074760+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.244","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PAX5 were set to 35094443; 31452935; 28263302; 25418537; 8001127; 27626380","entity_name":"PAX5","entity_type":"gene"},{"created":"2022-08-15T20:12:11.390845+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.243","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PAX5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PAX5","entity_type":"gene"},{"created":"2022-08-15T20:11:09.096251+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.242","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PAX5: Rating: AMBER; Mode of pathogenicity: None; Publications: 35947077; Phenotypes: Neurodevelopmental disorder MONDO:0700092, PAX5-related, Hypogammaglobulinaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PAX5","entity_type":"gene"},{"created":"2022-08-15T20:10:45.706505+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAX5 as ready","entity_name":"PAX5","entity_type":"gene"},{"created":"2022-08-15T20:10:45.698113+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pax5 has been classified as Amber List (Moderate Evidence).","entity_name":"PAX5","entity_type":"gene"},{"created":"2022-08-15T20:10:20.940455+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PAX5 were changed from Hypogammaglobulinaemia to Neurodevelopmental disorder MONDO:0700092, PAX5-related; Hypogammaglobulinaemia","entity_name":"PAX5","entity_type":"gene"},{"created":"2022-08-15T20:09:32.802347+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PAX5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PAX5","entity_type":"gene"},{"created":"2022-08-15T20:09:09.122511+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PAX5 as Amber List (moderate evidence)","entity_name":"PAX5","entity_type":"gene"},{"created":"2022-08-15T20:09:09.110964+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pax5 has been classified as Amber List (Moderate Evidence).","entity_name":"PAX5","entity_type":"gene"},{"created":"2022-08-15T13:46:24.371902+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.52","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"IFT140","entity_type":"gene"},{"created":"2022-08-15T07:43:06.372772+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRIM1 as ready","entity_name":"PRIM1","entity_type":"gene"},{"created":"2022-08-15T07:43:06.359957+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prim1 has been classified as Amber List (Moderate Evidence).","entity_name":"PRIM1","entity_type":"gene"},{"created":"2022-08-15T07:43:02.236604+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRIM1 as Amber List (moderate evidence)","entity_name":"PRIM1","entity_type":"gene"}]}