{"count":220309,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1413","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1411","results":[{"created":"2021-02-12T21:03:31.698183+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col7a1 has been classified as Green List (High Evidence).","entity_name":"COL7A1","entity_type":"gene"},{"created":"2021-02-12T21:03:28.054770+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6326","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COL7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: EBD inversa, MIM# 226600, EBD, Bart type MIM# 132000, EBD, localisata variant, Epidermolysis bullosa dystrophica, MIM# 131750, Epidermolysis bullosa dystrophica, 226600, Epidermolysis bullosa pruriginosa 604129, Epidermolysis bullosa, pretibial, MIM# 131850, Transient bullous of the newborn 131705; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"COL7A1","entity_type":"gene"},{"created":"2021-02-12T21:03:08.029265+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL7A1 were changed from  to EBD inversa, MIM# 226600; EBD, Bart type MIM# 132000; EBD, localisata variant; Epidermolysis bullosa dystrophica, MIM# 131750; Epidermolysis bullosa dystrophica, 226600; Epidermolysis bullosa pruriginosa 604129; Epidermolysis bullosa, pretibial, MIM# 131850; Transient bullous of the newborn 131705","entity_name":"COL7A1","entity_type":"gene"},{"created":"2021-02-12T21:02:36.388505+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COL7A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"COL7A1","entity_type":"gene"},{"created":"2021-02-12T21:02:07.261957+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COL7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: EBD inversa, MIM# 226600, EBD, Bart type MIM# 132000, EBD, localisata variant, Epidermolysis bullosa dystrophica, MIM# 131750, Epidermolysis bullosa dystrophica, 226600, Epidermolysis bullosa pruriginosa 604129, Epidermolysis bullosa, pretibial, MIM# 131850, Transient bullous of the newborn 131705; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"COL7A1","entity_type":"gene"},{"created":"2021-02-12T20:58:26.352820+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IGSF1 as ready","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-02-12T20:58:26.343975+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: igsf1 has been classified as Green List (High Evidence).","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-02-12T20:58:23.498208+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IGSF1 were changed from Hypothyroidism, central, and testicular enlargement (300888) to Hypothyroidism, central, and testicular enlargement, MIM# 300888","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-02-12T20:58:13.288922+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IGSF1 were set to 23143598; 23966245; 26302767","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-02-12T20:57:56.327489+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IGSF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27310681, 30086211, 24108313, 26840047, 27762734, 23143598; Phenotypes: Hypothyroidism, central, and testicular enlargement, MIM# 300888; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-02-12T20:56:53.064989+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6326","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IGSF1 as ready","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-02-12T20:56:53.057236+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6326","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: igsf1 has been classified as Green List (High Evidence).","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-02-12T20:56:45.517274+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6326","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IGSF1 were changed from  to Hypothyroidism, central, and testicular enlargement, MIM# 300888","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-02-12T20:56:32.125743+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6325","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IGSF1 were set to ","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-02-12T20:56:18.685299+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6324","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IGSF1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-02-12T20:52:38.952703+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6323","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IGSF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27310681, 30086211, 24108313, 26840047, 27762734, 23143598; Phenotypes: Hypothyroidism, central, and testicular enlargement, MIM# 300888; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-02-12T20:51:22.316275+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IGSF1 as ready","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-02-12T20:51:22.306860+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: igsf1 has been classified as Green List (High Evidence).","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-02-12T20:51:20.348722+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IGSF1 were changed from Hypothyroidism, central, and testicular enlargement, 300888; macroorchidism; central hypothyroidism; GH deficiency; hypoprolactinaemia to Hypothyroidism, central, and testicular enlargement, MIM# 300888","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-02-12T20:51:02.712841+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IGSF1 were set to 24108313 (reports that a subset of female carriers show central hypothyroidism).; 26840047; 27762734; 23143598","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-02-12T20:50:38.344352+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IGSF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23143598, 27310681, 30086211; Phenotypes: Hypothyroidism, central, and testicular enlargement, MIM# 300888; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"IGSF1","entity_type":"gene"},{"created":"2021-02-12T20:48:58.591145+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HESX1 as ready","entity_name":"HESX1","entity_type":"gene"},{"created":"2021-02-12T20:48:58.580717+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hesx1 has been classified as Green List (High Evidence).","entity_name":"HESX1","entity_type":"gene"},{"created":"2021-02-12T20:48:56.506473+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HESX1 were changed from GH and evolving TSH, ACTH, LH/FSH deficiency; Pituitary hormone deficiency, combined, 5, 182230; agenesis of corpus callous; optic nerve hypoplasia; anterior pituitary, ectopic posterior pituitary; septo-optic dysplasia; Panhypopiuitarism to Pituitary hormone deficiency, combined, 5, MIM# 182230","entity_name":"HESX1","entity_type":"gene"},{"created":"2021-02-12T20:48:29.503679+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 5, MIM# 182230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"HESX1","entity_type":"gene"},{"created":"2021-02-12T20:44:31.701627+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DDB2 as ready","entity_name":"DDB2","entity_type":"gene"},{"created":"2021-02-12T20:44:31.690163+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddb2 has been classified as Green List (High Evidence).","entity_name":"DDB2","entity_type":"gene"},{"created":"2021-02-12T20:44:26.222303+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DDB2 were changed from  to Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740","entity_name":"DDB2","entity_type":"gene"},{"created":"2021-02-12T20:44:04.469508+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DDB2 were set to ","entity_name":"DDB2","entity_type":"gene"},{"created":"2021-02-12T20:43:35.567905+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DDB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DDB2","entity_type":"gene"},{"created":"2021-02-12T20:43:00.344444+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DDB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33544716, 32457468, 32239545, 32228487; Phenotypes: Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740; Mode of inheritance: None","entity_name":"DDB2","entity_type":"gene"},{"created":"2021-02-12T20:40:09.452021+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BRIP1 as ready","entity_name":"BRIP1","entity_type":"gene"},{"created":"2021-02-12T20:40:09.434869+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: brip1 has been classified as Green List (High Evidence).","entity_name":"BRIP1","entity_type":"gene"},{"created":"2021-02-12T20:39:58.109485+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BRIP1 were changed from  to Fanconi anemia, complementation group J, MIM# 609054","entity_name":"BRIP1","entity_type":"gene"},{"created":"2021-02-12T20:39:02.605128+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BRIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"BRIP1","entity_type":"gene"},{"created":"2021-02-12T20:38:32.241067+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group J, MIM# 609054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BRIP1","entity_type":"gene"},{"created":"2021-02-12T20:37:49.770883+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BRCA2 as ready","entity_name":"BRCA2","entity_type":"gene"},{"created":"2021-02-12T20:37:49.760526+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: brca2 has been classified as Green List (High Evidence).","entity_name":"BRCA2","entity_type":"gene"},{"created":"2021-02-12T20:37:47.248487+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BRCA2 were changed from  to Fanconi anemia, complementation group D1, MIM# 605724","entity_name":"BRCA2","entity_type":"gene"},{"created":"2021-02-12T20:37:20.714880+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BRCA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"BRCA2","entity_type":"gene"},{"created":"2021-02-12T20:36:49.934276+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group D1, MIM# 605724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BRCA2","entity_type":"gene"},{"created":"2021-02-12T20:36:09.126133+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BLM as ready","entity_name":"BLM","entity_type":"gene"},{"created":"2021-02-12T20:36:09.108826+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: blm has been classified as Green List (High Evidence).","entity_name":"BLM","entity_type":"gene"},{"created":"2021-02-12T20:36:06.675907+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BLM were changed from  to Bloom syndrome, MIM# 210900","entity_name":"BLM","entity_type":"gene"},{"created":"2021-02-12T20:35:38.289681+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BLM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"BLM","entity_type":"gene"},{"created":"2021-02-12T20:35:08.532244+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bloom syndrome, MIM# 210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BLM","entity_type":"gene"},{"created":"2021-02-12T20:34:35.648567+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATM as ready","entity_name":"ATM","entity_type":"gene"},{"created":"2021-02-12T20:34:35.633654+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atm has been classified as Green List (High Evidence).","entity_name":"ATM","entity_type":"gene"},{"created":"2021-02-12T20:34:32.387658+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATM were changed from  to Ataxia-telangiectasia, MIM# 208900","entity_name":"ATM","entity_type":"gene"},{"created":"2021-02-12T20:34:04.118741+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATM","entity_type":"gene"},{"created":"2021-02-12T20:33:27.138818+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia-telangiectasia, MIM# 208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATM","entity_type":"gene"},{"created":"2021-02-12T15:46:01.637704+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6323","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FSTL5 as ready","entity_name":"FSTL5","entity_type":"gene"},{"created":"2021-02-12T15:46:01.627600+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6323","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fstl5 has been classified as Red List (Low Evidence).","entity_name":"FSTL5","entity_type":"gene"},{"created":"2021-02-12T15:45:49.456654+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6323","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FSTL5 as Red List (low evidence)","entity_name":"FSTL5","entity_type":"gene"},{"created":"2021-02-12T15:45:49.446577+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6323","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fstl5 has been classified as Red List (Low Evidence).","entity_name":"FSTL5","entity_type":"gene"},{"created":"2021-02-12T15:44:52.247883+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6322","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NCOA3 as ready","entity_name":"NCOA3","entity_type":"gene"},{"created":"2021-02-12T15:44:52.236720+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6322","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ncoa3 has been classified as Red List (Low Evidence).","entity_name":"NCOA3","entity_type":"gene"},{"created":"2021-02-12T15:43:32.438932+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6322","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NCOA3 as Red List (low evidence)","entity_name":"NCOA3","entity_type":"gene"},{"created":"2021-02-12T15:43:32.430798+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6322","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ncoa3 has been classified as Red List (Low Evidence).","entity_name":"NCOA3","entity_type":"gene"},{"created":"2021-02-12T09:11:16.744987+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FCHO1 were changed from Combined immunodeficiency; T cells: low, poor proliferation; B cells: normal number; Recurrent infections (viral, mycobacteria, bacterial, fungal); lymphoproliferation; Failure to thrive; Increased activation-induced T-cell death; Defective clathrin-mediated endocytosis to Immunodeficiency 76, MIM# 619164; Combined immunodeficiency; T cells: low, poor proliferation; B cells: normal number; Recurrent infections (viral, mycobacteria, bacterial, fungal); lymphoproliferation; Failure to thrive; Increased activation-induced T-cell death; Defective clathrin-mediated endocytosis","entity_name":"FCHO1","entity_type":"gene"},{"created":"2021-02-12T09:10:40.452000+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FCHO1: Changed phenotypes: Immunodeficiency 76, MIM# 619164, Combined immunodeficiency, T cells: low, poor proliferation, B cells: normal number, Recurrent infections (viral, mycobacteria, bacterial, fungal), lymphoproliferation, Failure to thrive, Increased activation-induced T-cell death, Defective clathrin-mediated endocytosis","entity_name":"FCHO1","entity_type":"gene"},{"created":"2021-02-12T09:10:12.112960+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6321","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FCHO1 were changed from Combined immunodeficiency; T cells: low, poor proliferation; B cells: normal number; Recurrent infections (viral, mycobacteria, bacterial, fungal); lymphoproliferation; Failure to thrive; Increased activation-induced T-cell death; Defective clathrin-mediated endocytosis to Immunodeficiency 76, MIM# 619164; Combined immunodeficiency; T cells: low, poor proliferation; B cells: normal number; Recurrent infections (viral, mycobacteria, bacterial, fungal); lymphoproliferation; Failure to thrive; Increased activation-induced T-cell death; Defective clathrin-mediated endocytosis","entity_name":"FCHO1","entity_type":"gene"},{"created":"2021-02-12T09:09:23.552492+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6320","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FCHO1: Changed phenotypes: Immunodeficiency 76, MIM# 619164, Combined immunodeficiency, T cells: low, poor proliferation, B cells: normal number, Recurrent infections (viral, mycobacteria, bacterial, fungal), lymphoproliferation, Failure to thrive, Increased activation-induced T-cell death, Defective clathrin-mediated endocytosis","entity_name":"FCHO1","entity_type":"gene"},{"created":"2021-02-12T06:12:17.927962+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6320","user_name":"Eleanor Williams","item_type":"entity","text":"gene: FSTL5 was added\ngene: FSTL5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FSTL5 was set to Unknown\nPublications for gene: FSTL5 were set to 33105483\nPhenotypes for gene: FSTL5 were set to isolated club-foot; iTEV; Talipes equinovarus\nReview for gene: FSTL5 was set to RED\nAdded comment: PMID: 33105483 - Khanshour et al 20201 - GWAS study of isolated Talipes equinovarus (clubfoot, iTEV) identified an associated locus within FSTL5. They show that Fstl5 is expressed in the embryonic hindlimb in bats, chicks and mice. However, Fstl5 was expressed more highly in neural tissues in mice, and rats lacking Fstl5 showed no gross developmental malformations.  Conditional overexpression of Fstl5 in osteochondroprogenitors resulted in sexually dimorphic differences in skeletal development in mice. \nSources: Literature","entity_name":"FSTL5","entity_type":"gene"},{"created":"2021-02-12T05:56:57.346264+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6320","user_name":"Eleanor Williams","item_type":"entity","text":"gene: NCOA3 was added\ngene: NCOA3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NCOA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NCOA3 were set to 33326993\nPhenotypes for gene: NCOA3 were set to non-syndromic hearing loss\nReview for gene: NCOA3 was set to RED\nAdded comment: PMID: 33326993 - Salazar da Silva et al 2020 - report a 5 generation Brazilian family with 15 individuals with non-syndromic, bilateral and progressive hearing loss. Using linkage analysis and then exome sequencing they identified a heterozygous variant in NCOA3 (NM_181659, c.2810C > G; p.Ser937Cys) that was found in the 7 analysed affected individuals. It was also found in 4 unaffected individuals but they are within the range of onset of hearing loss observed in the family. Expression of nco3 was found in the inner ear of mice and zebrafish. ncoa3-/- zebrafish showed subtle alterations in cartilage, mineral density and abnormal adult swimming behaviour, which may suggest the mechanism of pathogenicity. \nSources: Literature","entity_name":"NCOA3","entity_type":"gene"},{"created":"2021-02-11T20:57:56.387943+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6320","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CFHR3 as ready","entity_name":"CFHR3","entity_type":"gene"},{"created":"2021-02-11T20:57:56.374265+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6320","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cfhr3 has been classified as Green List (High Evidence).","entity_name":"CFHR3","entity_type":"gene"},{"created":"2021-02-11T20:57:41.692633+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6320","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CFHR3 were changed from  to {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400","entity_name":"CFHR3","entity_type":"gene"},{"created":"2021-02-11T20:57:14.389615+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6319","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CFHR3 were set to ","entity_name":"CFHR3","entity_type":"gene"},{"created":"2021-02-11T20:56:49.459121+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6318","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CFHR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CFHR3","entity_type":"gene"},{"created":"2021-02-11T20:56:28.687795+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6317","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CFHR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CFHR3","entity_type":"gene"},{"created":"2021-02-11T20:55:38.096137+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6317","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CFHR1 as ready","entity_name":"CFHR1","entity_type":"gene"},{"created":"2021-02-11T20:55:38.080570+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6317","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cfhr1 has been classified as Green List (High Evidence).","entity_name":"CFHR1","entity_type":"gene"},{"created":"2021-02-11T20:55:26.218586+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6317","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CFHR1 were changed from  to {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400","entity_name":"CFHR1","entity_type":"gene"},{"created":"2021-02-11T20:55:07.818054+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6316","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CFHR1 were set to ","entity_name":"CFHR1","entity_type":"gene"},{"created":"2021-02-11T20:54:44.495074+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6315","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CFHR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CFHR1","entity_type":"gene"},{"created":"2021-02-11T20:54:24.980045+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6314","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CFHR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CFHR1","entity_type":"gene"},{"created":"2021-02-11T20:53:26.899523+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CFHR3 as ready","entity_name":"CFHR3","entity_type":"gene"},{"created":"2021-02-11T20:53:26.888747+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cfhr3 has been classified as Green List (High Evidence).","entity_name":"CFHR3","entity_type":"gene"},{"created":"2021-02-11T20:53:24.302684+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CFHR3 were changed from  to {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400","entity_name":"CFHR3","entity_type":"gene"},{"created":"2021-02-11T20:52:55.080938+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CFHR3 were set to ","entity_name":"CFHR3","entity_type":"gene"},{"created":"2021-02-11T20:52:25.985306+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CFHR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CFHR3","entity_type":"gene"},{"created":"2021-02-11T20:52:17.093696+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: CFHR3.","entity_name":"CFHR3","entity_type":"gene"},{"created":"2021-02-11T20:51:43.733577+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CFHR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CFHR3","entity_type":"gene"},{"created":"2021-02-11T20:50:34.077562+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CFHR1 as ready","entity_name":"CFHR1","entity_type":"gene"},{"created":"2021-02-11T20:50:34.069842+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cfhr1 has been classified as Green List (High Evidence).","entity_name":"CFHR1","entity_type":"gene"},{"created":"2021-02-11T20:50:30.909395+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CFHR1 were changed from  to {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400","entity_name":"CFHR1","entity_type":"gene"},{"created":"2021-02-11T20:49:57.219688+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: CFHR1.","entity_name":"CFHR1","entity_type":"gene"},{"created":"2021-02-11T20:49:02.125655+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CFHR1 were set to ","entity_name":"CFHR1","entity_type":"gene"},{"created":"2021-02-11T20:48:34.737595+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CFHR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CFHR1","entity_type":"gene"},{"created":"2021-02-11T20:47:57.734181+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CFHR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CFHR1","entity_type":"gene"},{"created":"2021-02-11T20:46:45.998473+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SMAD9 were set to ","entity_name":"SMAD9","entity_type":"gene"},{"created":"2021-02-11T12:36:28.729055+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6314","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: CFHR3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:32424742; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400, {Macular degeneration, age-related, reduced risk of} MIM#603075; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CFHR3","entity_type":"gene"},{"created":"2021-02-11T12:35:35.222994+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6314","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: CFHR1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:32424742; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400, {Macular degeneration, age-related, reduced risk of} MIM#603075; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CFHR1","entity_type":"gene"},{"created":"2021-02-11T12:34:35.385554+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.32","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: CFHR3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:32424742; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400, {Macular degeneration, age-related, reduced risk of} MIM#603075; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CFHR3","entity_type":"gene"},{"created":"2021-02-11T12:32:39.539110+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.32","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: CFHR1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32424742; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400, {Macular degeneration, age-related, reduced risk of} MIM#603075; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CFHR1","entity_type":"gene"},{"created":"2021-02-11T12:08:29.572615+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.0","user_name":"Elena Savva","item_type":"entity","text":"edited their review of gene: SMAD9: Added comment: Alt gene name SMAD8\r\ngnomAD: pLI = 0. Most frequent NMD-pred PTC has 6 hets in the population, currently a VUS in ClinVar.\r\n\r\nPMID: 29844917 - NMD PTC in a 14 year old patient with brain arteriovenous malformation, resulted in reduced phosphorylation of downstream SMAD4. Zebrafish knockdown model showed abnormal cerebral artery-to-vein connection.\r\n\r\nPMID: 21920918 - NMD PTC in a patient with heritable pulmonary arterial hypertension. Functional studies on patient cells showed no significant effect in inducing miR-21, miR-27a or miR-100. ID1 (no OMIM) expression was significantly increased.\r\n\r\nPMID: 19211612 - NMD PTC in a patient, paternally inherited (also affected with pulmonary arterial hypertension). Functional studies show the protein could not interact with SMAD4, and reduced transcriptional activation activity.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"SMAD9","entity_type":"gene"},{"created":"2021-02-11T12:08:11.777046+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.0","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: SMAD9: Rating: ; Mode of pathogenicity: None; Publications: PMID: 29844917, 21920918, 19211612; Phenotypes: Pulmonary hypertension, primary, 2 MIM#615342; Mode of inheritance: None","entity_name":"SMAD9","entity_type":"gene"},{"created":"2021-02-10T15:55:42.941604+11:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALX4 were changed from  to Frontonasal dysplasia 2, MIM# 613451; FND2 with alopecia","entity_name":"ALX4","entity_type":"gene"},{"created":"2021-02-10T15:55:19.327478+11:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALX4 were set to ","entity_name":"ALX4","entity_type":"gene"}]}