{"count":220842,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1235","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1233","results":[{"created":"2021-08-17T18:06:43.566589+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8844","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tap2 has been classified as Green List (High Evidence).","entity_name":"TAP2","entity_type":"gene"},{"created":"2021-08-17T18:06:35.988880+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8844","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TAP2 were changed from  to Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571; Low CD8; absent MHC I on lymphocytes; Vasculitis; pyoderma gangrenosum; recurrent bacterial/viral respiratory infections; bronchiectasis","entity_name":"TAP2","entity_type":"gene"},{"created":"2021-08-17T18:06:13.796657+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8843","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TAP2 were set to ","entity_name":"TAP2","entity_type":"gene"},{"created":"2021-08-17T18:05:51.227666+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8842","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TAP2","entity_type":"gene"},{"created":"2021-08-17T18:05:05.540088+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8841","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TAP1 as ready","entity_name":"TAP1","entity_type":"gene"},{"created":"2021-08-17T18:05:05.529292+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8841","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tap1 has been classified as Green List (High Evidence).","entity_name":"TAP1","entity_type":"gene"},{"created":"2021-08-17T18:04:57.824232+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8841","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TAP1 were changed from  to Bare lymphocyte syndrome, type I MIM#604571; Low CD8; absent MHC I on lymphocytes; vasculitis; pyoderma gangrenosum; skin lesions; recurrent respiratory tract infections; bronchiectasis","entity_name":"TAP1","entity_type":"gene"},{"created":"2021-08-17T18:04:38.906023+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8840","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TAP1 were set to ","entity_name":"TAP1","entity_type":"gene"},{"created":"2021-08-17T18:04:18.138344+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8839","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TAP1","entity_type":"gene"},{"created":"2021-08-17T17:08:19.559298+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8838","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: PGRMC1 were changed from Premature ovarian failure to Premature ovarian failure; Isolated paediatric cataract","entity_name":"PGRMC1","entity_type":"gene"},{"created":"2021-08-17T17:00:29.730472+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8837","user_name":"Bryony Thompson","item_type":"entity","text":"Tag SV/CNV tag was added to gene: PGRMC1.","entity_name":"PGRMC1","entity_type":"gene"},{"created":"2021-08-17T17:00:27.843309+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8837","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: PGRMC1 were set to 25246111; 18782852","entity_name":"PGRMC1","entity_type":"gene"},{"created":"2021-08-17T16:54:12.468075+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8836","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: WIPF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22231303, 27742395, 11869681, 14757742; Phenotypes: Wiskott-Aldrich syndrome 2 MIM# 614493, Reduced T cells, defective lymphocyte responses to anti-CD3, high IgE, Thrombocytopenia with or without small platelets, recurrent bacterial and viral Infections, eczema, bloody diarrhoea, gastrointestinal bleeding, WAS protein absent; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WIPF1","entity_type":"gene"},{"created":"2021-08-17T16:49:14.297911+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8836","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PGRMC1 as Amber List (moderate evidence)","entity_name":"PGRMC1","entity_type":"gene"},{"created":"2021-08-17T16:49:14.287181+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8836","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pgrmc1 has been classified as Amber List (Moderate Evidence).","entity_name":"PGRMC1","entity_type":"gene"},{"created":"2021-08-17T16:48:49.901868+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8835","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: PGRMC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33867527, 23783460; Phenotypes: Isolated paediatric cataract; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PGRMC1","entity_type":"gene"},{"created":"2021-08-17T16:47:54.347112+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.286","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PGRMC1 as ready","entity_name":"PGRMC1","entity_type":"gene"},{"created":"2021-08-17T16:47:54.337279+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.286","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pgrmc1 has been classified as Amber List (Moderate Evidence).","entity_name":"PGRMC1","entity_type":"gene"},{"created":"2021-08-17T16:47:44.231166+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.286","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: A single large family with X-linked isolated paediatric cataract segregating a large 127 kb deletion truncating PGRMC1. A supporting knockout zebrafish model with cataract. Also, two unrelated probands with non-syndromic ID and cataract with a large deletion encompassing PGRMC1 and SLC25A5. \nSources: Literature; to: A single large family with X-linked isolated paediatric cataract in males segregating a large 127 kb deletion truncating PGRMC1. A supporting knockout zebrafish model with cataract. Also, two unrelated male probands with non-syndromic ID and cataract with a large deletion encompassing PGRMC1 and SLC25A5. \r\nSources: Literature","entity_name":"PGRMC1","entity_type":"gene"},{"created":"2021-08-17T16:47:17.008123+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.286","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PGRMC1 as Amber List (moderate evidence)","entity_name":"PGRMC1","entity_type":"gene"},{"created":"2021-08-17T16:47:16.998200+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.286","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pgrmc1 has been classified as Amber List (Moderate Evidence).","entity_name":"PGRMC1","entity_type":"gene"},{"created":"2021-08-17T16:46:32.143877+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.285","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PGRMC1 was added\ngene: PGRMC1 was added to Cataract. Sources: Literature\nSV/CNV tags were added to gene: PGRMC1.\nMode of inheritance for gene: PGRMC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PGRMC1 were set to 33867527; 23783460\nPhenotypes for gene: PGRMC1 were set to Isolated paediatric cataract\nReview for gene: PGRMC1 was set to AMBER\nAdded comment: A single large family with X-linked isolated paediatric cataract segregating a large 127 kb deletion truncating PGRMC1. A supporting knockout zebrafish model with cataract. Also, two unrelated probands with non-syndromic ID and cataract with a large deletion encompassing PGRMC1 and SLC25A5. \nSources: Literature","entity_name":"PGRMC1","entity_type":"gene"},{"created":"2021-08-17T16:43:10.063043+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.341","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WIPF1 as ready","entity_name":"WIPF1","entity_type":"gene"},{"created":"2021-08-17T16:43:10.053528+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.341","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wipf1 has been classified as Green List (High Evidence).","entity_name":"WIPF1","entity_type":"gene"},{"created":"2021-08-17T16:43:04.932628+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.341","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WIPF1 were changed from  to Wiskott-Aldrich syndrome 2 MIM# 614493; Reduced T cells; defective lymphocyte responses to anti-CD3; high IgE; Thrombocytopenia with or without small platelets; recurrent bacterial and viral Infections; eczema; bloody diarrhoea; gastrointestinal bleeding; WAS protein absent","entity_name":"WIPF1","entity_type":"gene"},{"created":"2021-08-17T16:42:41.094616+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.340","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: WIPF1 were set to ","entity_name":"WIPF1","entity_type":"gene"},{"created":"2021-08-17T16:42:17.069331+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.339","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: WIPF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"WIPF1","entity_type":"gene"},{"created":"2021-08-17T16:40:07.703789+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.338","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TCN2 as ready","entity_name":"TCN2","entity_type":"gene"},{"created":"2021-08-17T16:40:07.692793+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.338","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tcn2 has been classified as Green List (High Evidence).","entity_name":"TCN2","entity_type":"gene"},{"created":"2021-08-17T16:40:03.646194+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.338","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCN2 were changed from  to Transcobalamin II deficiency MIM# 275350; Decreased Ig levels; Megaloblastic anaemia; pancytopaenia; if untreated (B12) for prolonged periods results in intellectual disability; failure to thrive; diarrhoea; hypogammaglobulinaemia; pallor; hypotonia; respiratory infection","entity_name":"TCN2","entity_type":"gene"},{"created":"2021-08-17T16:39:31.440351+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.168","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: TRIM37: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10888877, 12754710, 15108285, 14757854, 27044324; Phenotypes: Mulibrey nanism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRIM37","entity_type":"gene"},{"created":"2021-08-17T16:39:29.787786+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.337","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TCN2 were set to ","entity_name":"TCN2","entity_type":"gene"},{"created":"2021-08-17T16:39:00.618758+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.336","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TCN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCN2","entity_type":"gene"},{"created":"2021-08-17T16:38:03.226112+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.335","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TAP2 as ready","entity_name":"TAP2","entity_type":"gene"},{"created":"2021-08-17T16:38:03.215227+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.335","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tap2 has been classified as Green List (High Evidence).","entity_name":"TAP2","entity_type":"gene"},{"created":"2021-08-17T16:37:59.783633+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.335","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TAP2 were changed from  to Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571; Low CD8; absent MHC I on lymphocytes; Vasculitis; pyoderma gangrenosum; recurrent bacterial/viral respiratory infections; bronchiectasis","entity_name":"TAP2","entity_type":"gene"},{"created":"2021-08-17T16:37:47.543879+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8835","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: TAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7517574, 9232449, 10560675, 27861817; Phenotypes: Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571, Low CD8, absent MHC I on lymphocytes, Vasculitis, pyoderma gangrenosum, recurrent bacterial/viral respiratory infections, bronchiectasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TAP2","entity_type":"gene"},{"created":"2021-08-17T16:37:29.376242+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.334","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TAP2 were set to ","entity_name":"TAP2","entity_type":"gene"},{"created":"2021-08-17T16:37:03.324260+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.333","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TAP2","entity_type":"gene"},{"created":"2021-08-17T16:36:32.924157+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8835","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: TAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28161407, 10074494, 1473153; Phenotypes: Bare lymphocyte syndrome, type I MIM#604571, Low CD8, absent MHC I on lymphocytes, vasculitis, pyoderma gangrenosum, skin lesions, recurrent respiratory tract infections, bronchiectasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TAP1","entity_type":"gene"},{"created":"2021-08-17T16:36:09.358269+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.332","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TAP1 as ready","entity_name":"TAP1","entity_type":"gene"},{"created":"2021-08-17T16:36:09.346324+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.332","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tap1 has been classified as Green List (High Evidence).","entity_name":"TAP1","entity_type":"gene"},{"created":"2021-08-17T16:36:05.892366+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.332","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TAP1 were changed from  to Bare lymphocyte syndrome, type I MIM#604571; Low CD8; absent MHC I on lymphocytes; vasculitis; pyoderma gangrenosum; skin lesions; recurrent respiratory tract infections; bronchiectasis","entity_name":"TAP1","entity_type":"gene"},{"created":"2021-08-17T16:35:47.641829+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.331","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TAP1 were set to 28161407; 10074494; 1473153","entity_name":"TAP1","entity_type":"gene"},{"created":"2021-08-17T16:35:21.620126+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.330","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TAP1 were set to ","entity_name":"TAP1","entity_type":"gene"},{"created":"2021-08-17T16:35:06.447479+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.330","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TAP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TAP1","entity_type":"gene"},{"created":"2021-08-17T16:34:41.635797+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.329","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TAP1","entity_type":"gene"},{"created":"2021-08-17T15:30:51.127647+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.328","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: ZBTB24: Rating: GREEN; Mode of pathogenicity: None; Publications: 21596365, 21906047, 27626380 32061411; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM# 614069, Facial dysmorphic features, developmental delay, macroglossia, bacterial/opportunistic infections, malabsorption, cytopaenia, malignancies, multiradial configurations of chromosomes 1, 9, 16, Hypogammaglobulinaemia or agammaglobulinaemia, variable antibody deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ZBTB24","entity_type":"gene"},{"created":"2021-08-17T15:28:10.513871+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.328","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: WIPF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22231303, 27742395, 11869681, 14757742; Phenotypes: Wiskott-Aldrich syndrome 2 MIM# 614493, Reduced T cells, defective lymphocyte responses to anti-CD3, high IgE, Thrombocytopenia with or without small platelets, recurrent bacterial and viral Infections, eczema, bloody diarrhoea, gastrointestinal bleeding, WAS protein absent; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WIPF1","entity_type":"gene"},{"created":"2021-08-17T15:27:26.432842+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.328","user_name":"Danielle Ariti","item_type":"entity","text":"Deleted their review","entity_name":"WIPF1","entity_type":"gene"},{"created":"2021-08-17T15:24:20.249597+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.328","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: WIPF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22231303, 27742395, 11869681, 14757742; Phenotypes: Wiskott-Aldrich syndrome 2 MIM# 614493, Reduced T cells, defective lymphocyte responses to anti-CD3, high IgE, Thrombocytopenia with or without small platelets, recurrent bacterial and viral Infections, eczema, bloody diarrhoea, WAS protein absent; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WIPF1","entity_type":"gene"},{"created":"2021-08-17T11:48:42.387442+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8835","user_name":"Teresa Zhao","item_type":"entity","text":"gene: ALS2 was added\ngene: ALS2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALS2 were set to PMID: 30128655; 33409823\nPhenotypes for gene: ALS2 were set to Infantile onset ascending spastic paralysis (MIM#607225); Juvenile amyotrophic lateral sclerosis 2 (MIM#205100); Juvenile primary lateral sclerosis (MIM#606353)\nReview for gene: ALS2 was set to GREEN\nAdded comment: >50 variants reported in multiple individuals with Infantile onset ascending spastic paralysis, mostly originated from the Middle East and Mediterranean countries. \nSources: Literature","entity_name":"ALS2","entity_type":"gene"},{"created":"2021-08-17T11:22:31.300772+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.328","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32841161, 33023511, 30124850; Phenotypes: Transcobalamin II deficiency MIM# 275350, Decreased Ig levels, Megaloblastic anaemia, pancytopaenia, if untreated (B12) for prolonged periods results in intellectual disability, failure to thrive, diarrhoea, hypogammaglobulinaemia, pallor, hypotonia, respiratory infection; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCN2","entity_type":"gene"},{"created":"2021-08-17T11:19:45.882468+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.328","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: TAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7517574, 9232449, 10560675, 27861817; Phenotypes: Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571, Low CD8, absent MHC I on lymphocytes, Vasculitis, pyoderma gangrenosum, recurrent bacterial/viral respiratory infections, bronchiectasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TAP2","entity_type":"gene"},{"created":"2021-08-17T10:29:09.033275+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.63","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: HMNMYO as ready","entity_name":"HMNMYO","entity_type":"str"},{"created":"2021-08-17T10:29:09.024504+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.63","user_name":"Bryony Thompson","item_type":"entity","text":"Str: hmnmyo has been classified as Green List (High Evidence).","entity_name":"HMNMYO","entity_type":"str"},{"created":"2021-08-17T10:29:05.379545+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.63","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: HMNMYO as Green List (high evidence)","entity_name":"HMNMYO","entity_type":"str"},{"created":"2021-08-17T10:29:05.369652+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.63","user_name":"Bryony Thompson","item_type":"entity","text":"Str: hmnmyo has been classified as Green List (High Evidence).","entity_name":"HMNMYO","entity_type":"str"},{"created":"2021-08-17T10:28:50.588717+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.62","user_name":"Bryony Thompson","item_type":"entity","text":"STR: HMNMYO was added\nSTR: HMNMYO was added to Repeat Disorders. Sources: Literature\nMode of inheritance for STR: HMNMYO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: HMNMYO were set to 33559681; 33459760\nPhenotypes for STR: HMNMYO were set to Neuropathy, hereditary motor, with myopathic features\tMIM#619216\nReview for STR: HMNMYO was set to GREEN\nSTR: HMNMYO was marked as clinically relevant\nAdded comment: NM_022834.5(VWA1):c.62_71GCGCGGAGCG[X]\r\n10-bp repeat expansion leading to a loss of function allele, was observed in 14/15 families and was homozygous in 10/15 with a recessive hereditary motor neuropathy.\r\nNormal: 2 repeats\r\nPathogenic: >=3 repeats (currently only 3 repeats reported) \nSources: Literature","entity_name":"HMNMYO","entity_type":"str"},{"created":"2021-08-17T09:21:16.594651+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.328","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: TAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28161407, 10074494, 1473153; Phenotypes: Bare lymphocyte syndrome, type I MIM#604571, Low CD8, absent MHC I on lymphocytes, vasculitis, pyoderma gangrenosum, skin lesions, recurrent respiratory tract infections, bronchiectasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TAP1","entity_type":"gene"},{"created":"2021-08-17T08:58:48.731470+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RNF220 as ready","entity_name":"RNF220","entity_type":"gene"},{"created":"2021-08-17T08:58:48.721377+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf220 has been classified as Green List (High Evidence).","entity_name":"RNF220","entity_type":"gene"},{"created":"2021-08-17T08:58:44.718203+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RNF220 as Green List (high evidence)","entity_name":"RNF220","entity_type":"gene"},{"created":"2021-08-17T08:58:44.708047+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf220 has been classified as Green List (High Evidence).","entity_name":"RNF220","entity_type":"gene"},{"created":"2021-08-17T08:58:35.720134+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RNF220 was added\ngene: RNF220 was added to Cardiomyopathy_Paediatric. Sources: Literature\nfounder tags were added to gene: RNF220.\nMode of inheritance for gene: RNF220 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNF220 were set to 33964137; 10881263\nPhenotypes for gene: RNF220 were set to Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum\nReview for gene: RNF220 was set to GREEN\nAdded comment: Sferra et al (2021 - PMID: 33964137) provide extensive evidence that biallelic RNF220 mutations cause a disorder characterized by hypomyelinating leukodystrophy, ataxia (9/9 - onset 1-5y), borderline intellectual functioning (3/9) / intellectual disability (5/9 - in most cases mild), sensorineural deafness (9/9) with complete hearing loss in the first decade of life, hepatopathy (9/9) with associated periportal fibrosis, and dilated cardiomyopathy (9/9) which was fatal.\r\n\r\nOther neurologic manifestations apart from ataxia incl. hyperreflexia (8/8), spastic paraplegia (9/9), dysarthria (9/9), peripheral neuropathy (4/9), seizures in one case (1/9). Upon brain MRI there was thin corpus callosum (9/9) or cerebellar atrophy in some (2/9).\r\n\r\nThe authors identified homozygosity for 2 recurrent missense RNF220 variants in affected members belonging to these 5 broad consanguineous pedigrees (7 families), namely NM_018150.4:c.1094G>A / p.Arg365Gly in 4 Roma families in the context of a shared haplotype (/founder effect) as well as c.1088G>A / p.Arg363Gly in a large pedigree from southern Italy initially reported by Leuzzi et al (2000 - PMID: 10881263).\r\n\r\nExtensive segregation analyses were carried out including several affected and unaffected members.\r\n\r\nRNF220 encodes ring finger protein 220, which functions as an E3 ubiquitin ligase. Previous studies have shown among others a role in modulation of Sonic hedgehog/GLI signaling and cerebellar development \r\n\r\nEvidence for the role of RNF220 included relevant expression, localization within the cell, interaction partners (lamin B1, 20S proteasome), similarities with other laminopathies in terms of phenotype, etc :\r\n*RNF220 has a relevant expression pattern in CNS (based on qRT-PCR analyses in human brain, cerebellum, cerebral cortex / mRNA levels in human fetal CNS with higher expression in cerebellum, spinal cord and cortex / previous GTEx data / protein levels in mouse CNS)\r\n*The protein displays nuclear localization based on iPSC cells differentiated to motor neurons (also supported by data from the Human Protein Atlas). Transfection of COS-1 cells demonstrated localization primarily to the nucleus (as also previously demonstrated in HEK293T cells) in vesicle like structures with ASF2/SF2 colocalization suggesting enrichment in nuclear speckles. There was also partial co-distribution with the 20S proteasome. R363Q and R365Q additionally coalesced in the cytoplasm forming protein aggregates/inclusions.\r\n*Immunofluorescence studies in patient fibroblasts also confirmed abnormal increase of the protein in the cytoplasm and increased fluorescence with the 20S proteasome.\r\n*Proteomic identification of RNF220-interacting proteins in transfected HEK293T cells demonstrated enrichment for all members of the lamin protein family (incl . lamin B1, AC, B2). \r\n*RNAi-mediated downregulation of RNF222 in Drosophila suggested altered subcellular localization and accumulation of the fly orthologue for human lamin B1.\r\n*Immunoprecipitation of lamin B1 from the nuclear matrix of cerebellar cells suggested significant interaction of endogenous lamin B1 with RNF220, while transfection studies in HEK293T cells for wt/mt suggested reduced binding to endogenous lamin B1 for RNF220 mt compared to wt (more prominent for R365Q). RNF220 mutants also reduced ubiquitination of nuclear lamin B1 compared to wt.\r\n*Patient fibroblasts immunostained with different nuclear envelope markers displayed abnormal nuclear shapes with multiple invaginations and lobulations, findings also observed in laminopathies. \nSources: Literature","entity_name":"RNF220","entity_type":"gene"},{"created":"2021-08-17T08:58:16.711429+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.89","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RNF220 as ready","entity_name":"RNF220","entity_type":"gene"},{"created":"2021-08-17T08:58:16.701424+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.89","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf220 has been classified as Green List (High Evidence).","entity_name":"RNF220","entity_type":"gene"},{"created":"2021-08-17T08:58:15.171505+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.89","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RNF220 as Green List (high evidence)","entity_name":"RNF220","entity_type":"gene"},{"created":"2021-08-17T08:58:15.161365+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.89","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf220 has been classified as Green List (High Evidence).","entity_name":"RNF220","entity_type":"gene"},{"created":"2021-08-17T08:57:12.967612+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.88","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RNF220 was added\ngene: RNF220 was added to Deafness_IsolatedAndComplex. Sources: Literature\nfounder tags were added to gene: RNF220.\nMode of inheritance for gene: RNF220 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNF220 were set to 33964137; 10881263\nPhenotypes for gene: RNF220 were set to Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum\nReview for gene: RNF220 was set to GREEN\nAdded comment: Sferra et al (2021 - PMID: 33964137) provide extensive evidence that biallelic RNF220 mutations cause a disorder characterized by hypomyelinating leukodystrophy, ataxia (9/9 - onset 1-5y), borderline intellectual functioning (3/9) / intellectual disability (5/9 - in most cases mild), sensorineural deafness (9/9) with complete hearing loss in the first decade of life, hepatopathy (9/9) with associated periportal fibrosis, and dilated cardiomyopathy (9/9) which was fatal.\r\n\r\nOther neurologic manifestations apart from ataxia incl. hyperreflexia (8/8), spastic paraplegia (9/9), dysarthria (9/9), peripheral neuropathy (4/9), seizures in one case (1/9). Upon brain MRI there was thin corpus callosum (9/9) or cerebellar atrophy in some (2/9).\r\n\r\nThe authors identified homozygosity for 2 recurrent missense RNF220 variants in affected members belonging to these 5 broad consanguineous pedigrees (7 families), namely NM_018150.4:c.1094G>A / p.Arg365Gly in 4 Roma families in the context of a shared haplotype (/founder effect) as well as c.1088G>A / p.Arg363Gly in a large pedigree from southern Italy initially reported by Leuzzi et al (2000 - PMID: 10881263).\r\n\r\nExtensive segregation analyses were carried out including several affected and unaffected members.\r\n\r\nRNF220 encodes ring finger protein 220, which functions as an E3 ubiquitin ligase. Previous studies have shown among others a role in modulation of Sonic hedgehog/GLI signaling and cerebellar development \r\n\r\nEvidence for the role of RNF220 included relevant expression, localization within the cell, interaction partners (lamin B1, 20S proteasome), similarities with other laminopathies in terms of phenotype, etc :\r\n*RNF220 has a relevant expression pattern in CNS (based on qRT-PCR analyses in human brain, cerebellum, cerebral cortex / mRNA levels in human fetal CNS with higher expression in cerebellum, spinal cord and cortex / previous GTEx data / protein levels in mouse CNS)\r\n*The protein displays nuclear localization based on iPSC cells differentiated to motor neurons (also supported by data from the Human Protein Atlas). Transfection of COS-1 cells demonstrated localization primarily to the nucleus (as also previously demonstrated in HEK293T cells) in vesicle like structures with ASF2/SF2 colocalization suggesting enrichment in nuclear speckles. There was also partial co-distribution with the 20S proteasome. R363Q and R365Q additionally coalesced in the cytoplasm forming protein aggregates/inclusions.\r\n*Immunofluorescence studies in patient fibroblasts also confirmed abnormal increase of the protein in the cytoplasm and increased fluorescence with the 20S proteasome.\r\n*Proteomic identification of RNF220-interacting proteins in transfected HEK293T cells demonstrated enrichment for all members of the lamin protein family (incl . lamin B1, AC, B2). \r\n*RNAi-mediated downregulation of RNF222 in Drosophila suggested altered subcellular localization and accumulation of the fly orthologue for human lamin B1.\r\n*Immunoprecipitation of lamin B1 from the nuclear matrix of cerebellar cells suggested significant interaction of endogenous lamin B1 with RNF220, while transfection studies in HEK293T cells for wt/mt suggested reduced binding to endogenous lamin B1 for RNF220 mt compared to wt (more prominent for R365Q). RNF220 mutants also reduced ubiquitination of nuclear lamin B1 compared to wt.\r\n*Patient fibroblasts immunostained with different nuclear envelope markers displayed abnormal nuclear shapes with multiple invaginations and lobulations, findings also observed in laminopathies. \nSources: Literature","entity_name":"RNF220","entity_type":"gene"},{"created":"2021-08-17T08:56:42.353825+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.291","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RNF220 as ready","entity_name":"RNF220","entity_type":"gene"},{"created":"2021-08-17T08:56:42.342758+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.291","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf220 has been classified as Green List (High Evidence).","entity_name":"RNF220","entity_type":"gene"},{"created":"2021-08-17T08:55:49.059149+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.291","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RNF220 as Green List (high evidence)","entity_name":"RNF220","entity_type":"gene"},{"created":"2021-08-17T08:55:49.046309+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.291","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf220 has been classified as Green List (High Evidence).","entity_name":"RNF220","entity_type":"gene"},{"created":"2021-08-17T08:55:36.693392+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.290","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RNF220 was added\ngene: RNF220 was added to Ataxia - paediatric. Sources: Literature\nfounder tags were added to gene: RNF220.\nMode of inheritance for gene: RNF220 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNF220 were set to 33964137; 10881263\nPhenotypes for gene: RNF220 were set to Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum\nReview for gene: RNF220 was set to GREEN\nAdded comment: Sferra et al (2021 - PMID: 33964137) provide extensive evidence that biallelic RNF220 mutations cause a disorder characterized by hypomyelinating leukodystrophy, ataxia (9/9 - onset 1-5y), borderline intellectual functioning (3/9) / intellectual disability (5/9 - in most cases mild), sensorineural deafness (9/9) with complete hearing loss in the first decade of life, hepatopathy (9/9) with associated periportal fibrosis, and dilated cardiomyopathy (9/9) which was fatal.\r\n\r\nOther neurologic manifestations apart from ataxia incl. hyperreflexia (8/8), spastic paraplegia (9/9), dysarthria (9/9), peripheral neuropathy (4/9), seizures in one case (1/9). Upon brain MRI there was thin corpus callosum (9/9) or cerebellar atrophy in some (2/9).\r\n\r\nThe authors identified homozygosity for 2 recurrent missense RNF220 variants in affected members belonging to these 5 broad consanguineous pedigrees (7 families), namely NM_018150.4:c.1094G>A / p.Arg365Gly in 4 Roma families in the context of a shared haplotype (/founder effect) as well as c.1088G>A / p.Arg363Gly in a large pedigree from southern Italy initially reported by Leuzzi et al (2000 - PMID: 10881263).\r\n\r\nExtensive segregation analyses were carried out including several affected and unaffected members.\r\n\r\nRNF220 encodes ring finger protein 220, which functions as an E3 ubiquitin ligase. Previous studies have shown among others a role in modulation of Sonic hedgehog/GLI signaling and cerebellar development \r\n\r\nEvidence for the role of RNF220 included relevant expression, localization within the cell, interaction partners (lamin B1, 20S proteasome), similarities with other laminopathies in terms of phenotype, etc :\r\n*RNF220 has a relevant expression pattern in CNS (based on qRT-PCR analyses in human brain, cerebellum, cerebral cortex / mRNA levels in human fetal CNS with higher expression in cerebellum, spinal cord and cortex / previous GTEx data / protein levels in mouse CNS)\r\n*The protein displays nuclear localization based on iPSC cells differentiated to motor neurons (also supported by data from the Human Protein Atlas). Transfection of COS-1 cells demonstrated localization primarily to the nucleus (as also previously demonstrated in HEK293T cells) in vesicle like structures with ASF2/SF2 colocalization suggesting enrichment in nuclear speckles. There was also partial co-distribution with the 20S proteasome. R363Q and R365Q additionally coalesced in the cytoplasm forming protein aggregates/inclusions.\r\n*Immunofluorescence studies in patient fibroblasts also confirmed abnormal increase of the protein in the cytoplasm and increased fluorescence with the 20S proteasome.\r\n*Proteomic identification of RNF220-interacting proteins in transfected HEK293T cells demonstrated enrichment for all members of the lamin protein family (incl . lamin B1, AC, B2). \r\n*RNAi-mediated downregulation of RNF222 in Drosophila suggested altered subcellular localization and accumulation of the fly orthologue for human lamin B1.\r\n*Immunoprecipitation of lamin B1 from the nuclear matrix of cerebellar cells suggested significant interaction of endogenous lamin B1 with RNF220, while transfection studies in HEK293T cells for wt/mt suggested reduced binding to endogenous lamin B1 for RNF220 mt compared to wt (more prominent for R365Q). RNF220 mutants also reduced ubiquitination of nuclear lamin B1 compared to wt.\r\n*Patient fibroblasts immunostained with different nuclear envelope markers displayed abnormal nuclear shapes with multiple invaginations and lobulations, findings also observed in laminopathies. \nSources: Literature","entity_name":"RNF220","entity_type":"gene"},{"created":"2021-08-17T08:54:06.242578+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.230","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RNF220 as ready","entity_name":"RNF220","entity_type":"gene"},{"created":"2021-08-17T08:54:06.233075+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.230","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf220 has been classified as Green List (High Evidence).","entity_name":"RNF220","entity_type":"gene"},{"created":"2021-08-17T08:54:02.726145+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.230","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RNF220 as Green List (high evidence)","entity_name":"RNF220","entity_type":"gene"},{"created":"2021-08-17T08:54:02.715901+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.230","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf220 has been classified as Green List (High Evidence).","entity_name":"RNF220","entity_type":"gene"},{"created":"2021-08-17T08:53:44.585640+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8835","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: RNF220.","entity_name":"RNF220","entity_type":"gene"},{"created":"2021-08-17T08:53:35.389588+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RNF220 was added\ngene: RNF220 was added to Leukodystrophy - paediatric. Sources: Literature\nfounder tags were added to gene: RNF220.\nMode of inheritance for gene: RNF220 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNF220 were set to 33964137; 10881263\nPhenotypes for gene: RNF220 were set to Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum\nReview for gene: RNF220 was set to GREEN\nAdded comment: Sferra et al (2021 - PMID: 33964137) provide extensive evidence that biallelic RNF220 mutations cause a disorder characterized by hypomyelinating leukodystrophy, ataxia (9/9 - onset 1-5y), borderline intellectual functioning (3/9) / intellectual disability (5/9 - in most cases mild), sensorineural deafness (9/9) with complete hearing loss in the first decade of life, hepatopathy (9/9) with associated periportal fibrosis, and dilated cardiomyopathy (9/9) which was fatal.\r\n\r\nOther neurologic manifestations apart from ataxia incl. hyperreflexia (8/8), spastic paraplegia (9/9), dysarthria (9/9), peripheral neuropathy (4/9), seizures in one case (1/9). Upon brain MRI there was thin corpus callosum (9/9) or cerebellar atrophy in some (2/9).\r\n\r\nThe authors identified homozygosity for 2 recurrent missense RNF220 variants in affected members belonging to these 5 broad consanguineous pedigrees (7 families), namely NM_018150.4:c.1094G>A / p.Arg365Gly in 4 Roma families in the context of a shared haplotype (/founder effect) as well as c.1088G>A / p.Arg363Gly in a large pedigree from southern Italy initially reported by Leuzzi et al (2000 - PMID: 10881263).\r\n\r\nExtensive segregation analyses were carried out including several affected and unaffected members.\r\n\r\nRNF220 encodes ring finger protein 220, which functions as an E3 ubiquitin ligase. Previous studies have shown among others a role in modulation of Sonic hedgehog/GLI signaling and cerebellar development \r\n\r\nEvidence for the role of RNF220 included relevant expression, localization within the cell, interaction partners (lamin B1, 20S proteasome), similarities with other laminopathies in terms of phenotype, etc :\r\n*RNF220 has a relevant expression pattern in CNS (based on qRT-PCR analyses in human brain, cerebellum, cerebral cortex / mRNA levels in human fetal CNS with higher expression in cerebellum, spinal cord and cortex / previous GTEx data / protein levels in mouse CNS)\r\n*The protein displays nuclear localization based on iPSC cells differentiated to motor neurons (also supported by data from the Human Protein Atlas). Transfection of COS-1 cells demonstrated localization primarily to the nucleus (as also previously demonstrated in HEK293T cells) in vesicle like structures with ASF2/SF2 colocalization suggesting enrichment in nuclear speckles. There was also partial co-distribution with the 20S proteasome. R363Q and R365Q additionally coalesced in the cytoplasm forming protein aggregates/inclusions.\r\n*Immunofluorescence studies in patient fibroblasts also confirmed abnormal increase of the protein in the cytoplasm and increased fluorescence with the 20S proteasome.\r\n*Proteomic identification of RNF220-interacting proteins in transfected HEK293T cells demonstrated enrichment for all members of the lamin protein family (incl . lamin B1, AC, B2). \r\n*RNAi-mediated downregulation of RNF222 in Drosophila suggested altered subcellular localization and accumulation of the fly orthologue for human lamin B1.\r\n*Immunoprecipitation of lamin B1 from the nuclear matrix of cerebellar cells suggested significant interaction of endogenous lamin B1 with RNF220, while transfection studies in HEK293T cells for wt/mt suggested reduced binding to endogenous lamin B1 for RNF220 mt compared to wt (more prominent for R365Q). RNF220 mutants also reduced ubiquitination of nuclear lamin B1 compared to wt.\r\n*Patient fibroblasts immunostained with different nuclear envelope markers displayed abnormal nuclear shapes with multiple invaginations and lobulations, findings also observed in laminopathies. \nSources: Literature","entity_name":"RNF220","entity_type":"gene"},{"created":"2021-08-17T08:52:19.766791+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8835","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RNF220 as ready","entity_name":"RNF220","entity_type":"gene"},{"created":"2021-08-17T08:52:19.755598+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8835","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf220 has been classified as Green List (High Evidence).","entity_name":"RNF220","entity_type":"gene"},{"created":"2021-08-17T08:52:05.320249+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8835","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RNF220 as Green List (high evidence)","entity_name":"RNF220","entity_type":"gene"},{"created":"2021-08-17T08:52:05.310881+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8835","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf220 has been classified as Green List (High Evidence).","entity_name":"RNF220","entity_type":"gene"},{"created":"2021-08-17T08:51:40.447806+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8834","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RNF220 was added\ngene: RNF220 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RNF220 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNF220 were set to 33964137; 10881263\nPhenotypes for gene: RNF220 were set to Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum\nReview for gene: RNF220 was set to GREEN\nAdded comment: Sferra et al (2021 - PMID: 33964137) provide extensive evidence that biallelic RNF220 mutations cause a disorder characterized by hypomyelinating leukodystrophy, ataxia (9/9 - onset 1-5y), borderline intellectual functioning (3/9) / intellectual disability (5/9 - in most cases mild), sensorineural deafness (9/9) with complete hearing loss in the first decade of life, hepatopathy (9/9) with associated periportal fibrosis, and dilated cardiomyopathy (9/9) which was fatal.\r\n\r\nOther neurologic manifestations apart from ataxia incl. hyperreflexia (8/8), spastic paraplegia (9/9), dysarthria (9/9), peripheral neuropathy (4/9), seizures in one case (1/9). Upon brain MRI there was thin corpus callosum (9/9) or cerebellar atrophy in some (2/9).\r\n\r\nThe authors identified homozygosity for 2 recurrent missense RNF220 variants in affected members belonging to these 5 broad consanguineous pedigrees (7 families), namely NM_018150.4:c.1094G>A / p.Arg365Gly in 4 Roma families in the context of a shared haplotype (/founder effect) as well as c.1088G>A / p.Arg363Gly in a large pedigree from southern Italy initially reported by Leuzzi et al (2000 - PMID: 10881263).\r\n\r\nExtensive segregation analyses were carried out including several affected and unaffected members.\r\n\r\nRNF220 encodes ring finger protein 220, which functions as an E3 ubiquitin ligase. Previous studies have shown among others a role in modulation of Sonic hedgehog/GLI signaling and cerebellar development \r\n\r\nEvidence for the role of RNF220 included relevant expression, localization within the cell, interaction partners (lamin B1, 20S proteasome), similarities with other laminopathies in terms of phenotype, etc :\r\n*RNF220 has a relevant expression pattern in CNS (based on qRT-PCR analyses in human brain, cerebellum, cerebral cortex / mRNA levels in human fetal CNS with higher expression in cerebellum, spinal cord and cortex / previous GTEx data / protein levels in mouse CNS)\r\n*The protein displays nuclear localization based on iPSC cells differentiated to motor neurons (also supported by data from the Human Protein Atlas). Transfection of COS-1 cells demonstrated localization primarily to the nucleus (as also previously demonstrated in HEK293T cells) in vesicle like structures with ASF2/SF2 colocalization suggesting enrichment in nuclear speckles. There was also partial co-distribution with the 20S proteasome. R363Q and R365Q additionally coalesced in the cytoplasm forming protein aggregates/inclusions.\r\n*Immunofluorescence studies in patient fibroblasts also confirmed abnormal increase of the protein in the cytoplasm and increased fluorescence with the 20S proteasome.\r\n*Proteomic identification of RNF220-interacting proteins in transfected HEK293T cells demonstrated enrichment for all members of the lamin protein family (incl . lamin B1, AC, B2). \r\n*RNAi-mediated downregulation of RNF222 in Drosophila suggested altered subcellular localization and accumulation of the fly orthologue for human lamin B1.\r\n*Immunoprecipitation of lamin B1 from the nuclear matrix of cerebellar cells suggested significant interaction of endogenous lamin B1 with RNF220, while transfection studies in HEK293T cells for wt/mt suggested reduced binding to endogenous lamin B1 for RNF220 mt compared to wt (more prominent for R365Q). RNF220 mutants also reduced ubiquitination of nuclear lamin B1 compared to wt.\r\n*Patient fibroblasts immunostained with different nuclear envelope markers displayed abnormal nuclear shapes with multiple invaginations and lobulations, findings also observed in laminopathies. \nSources: Literature","entity_name":"RNF220","entity_type":"gene"},{"created":"2021-08-17T08:49:52.726161+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4060","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RNF220 as ready","entity_name":"RNF220","entity_type":"gene"},{"created":"2021-08-17T08:49:52.717172+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4060","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf220 has been classified as Green List (High Evidence).","entity_name":"RNF220","entity_type":"gene"},{"created":"2021-08-17T08:49:04.391391+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4060","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RNF220 as Green List (high evidence)","entity_name":"RNF220","entity_type":"gene"},{"created":"2021-08-17T08:49:04.381593+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4060","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf220 has been classified as Green List (High Evidence).","entity_name":"RNF220","entity_type":"gene"},{"created":"2021-08-17T02:57:37.701580+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4059","user_name":"Konstantinos Varvagiannis","item_type":"entity","text":"changed review comment from: Sferra et al (2021 - PMID: 33964137) provide extensive evidence that biallelic RNF220 mutations cause a disorder characterized by hypomyelinating leukodystrophy, ataxia (9/9 - onset 1-5y), borderline intellectual functioning (3/9) / intellectual disability (5/9 - in most cases mild), sensorineural deafness (9/9) with complete hearing loss in the first decade of life, hepatopathy (9/9) with associated periportal fibrosis, and dilated cardiomyopathy (9/9) which was fatal.\r\n\r\nOther neurologic manifestations apart from ataxia incl. hyperreflexia (8/8), spastic paraplegia (9/9), dysarthria (9/9), peripheral neuropathy (4/9), seizures in one case (1/9). Upon brain MRI there was thin corpus callosum (9/9) or cerebellar atrophy in some (2/9).\r\n\r\nThe authors identified homozygosity for 2 recurrent missense RNF220 variants in affected members belonging to these 5 broad consanguineous pedigrees (7 families), namely NM_018150.4:c.1094G>A / p.Arg365Gly in 4 Roma families in the context of a shared haplotype (/founder effect) as well as c.1088G>A / p.Arg363Gly in a large pedigree from southern Italy initially reported by Leuzzi et al (2000 - PMID: 10881263).\r\n\r\nExtensive segregation analyses were carried out including several affected and unaffected members.\r\n\r\nRNF220 encodes ring finger protein 220, which functions as an E3 ubiquitin ligase. Previous studies have shown among others a role in modulation of Sonic hedgehog/GLI signaling and cerebellar development \r\n\r\nEvidence for the role of RNF220 included relevant expression, localization within the cell, interaction partners (lamin B1, 20S proteasome), similarities with other laminopathies in terms of phenotype, etc :\r\n*RNF220 has a relevant expression pattern in CNS (based on qRT-PCR analyses in human brain, cerebellum, cerebral cortex / mRNA levels in human fetal CNS with higher expression in cerebellum, spinal cord and cortex / previous GTEx data / protein levels in mouse CNS)\r\n*The protein displays nuclear localization based on iPSC cells differentiated to motor neurons (also supported by data from the Human Protein Atlas). Transfection of COS-1 cells  demonstrated localization primarily to the nucleus (as also previously demonstrated in HEK293T cells) in vesicle like structures with ASF2/SF2 colocalization suggesting enrichment in nuclear speckles. There was also partial co-distribution with the 20S proteasome. R363Q and R365Q additionally coalesced in the cytoplasm forming protein aggregates/inclusions.\r\n*Immunofluorescence studies in patient fibroblasts also confirmed abnormal increase of the protein in the cytoplasm and increased fluorescence with the 20S proteasome.\r\n*Proteomic identification of RNF220-interacting proteins in transfected HEK293T cells demonstrated enrichment for all members of the lamin protein family (incl . lamin B1, AC, B2). \r\n*RNAi-mediated downregulation of RNF222 in Drosophila suggested altered subcellular localization and accumulation of the fly orthologue for human lamin B1.\r\n*Immunoprecipitation of lamin B1 from the nuclear matrix of cerebellar cells suggested significant interaction of endogenous lamin B1 with RNF220, while transfection studies in HEK293T cells for wt/mt suggested reduced binding to endogenous lamin B1 for RNF220 mt compared to wt (more prominent for R365Q). RNF220 mutants also reduced ubiquitination of nuclear lamin B1 compared to wt.\r\n*Patient fibroblasts immunostained with different nuclear envelope markers displayed abnormal nuclear shapes with multiple invaginations and lobulations, findings also observed in laminopathies.\r\n\r\nThere is currently no associated phenotype in OMIM or G2P. SysID includes RNF220 among the current primary ID genes. \nSources: Literature, Other; to: Sferra et al (2021 - PMID: 33964137) provide extensive evidence that biallelic RNF220 mutations cause a disorder characterized by hypomyelinating leukodystrophy, ataxia (9/9 - onset 1-5y), borderline intellectual functioning (3/9) / intellectual disability (5/9 - in most cases mild), sensorineural deafness (9/9) with complete hearing loss in the first decade of life, hepatopathy (9/9) with associated periportal fibrosis, and dilated cardiomyopathy (9/9) which was fatal.\r\n\r\nOther neurologic manifestations apart from ataxia incl. hyperreflexia (8/8), spastic paraplegia (9/9), dysarthria (9/9), peripheral neuropathy (4/9), seizures in one case (1/9). Upon brain MRI there was thin corpus callosum (9/9) or cerebellar atrophy in some (2/9).\r\n\r\nThe authors identified homozygosity for 2 recurrent missense RNF220 variants in affected members belonging to these 5 broad consanguineous pedigrees (7 families), namely NM_018150.4:c.1094G>A / p.Arg365Gly in 4 Roma families in the context of a shared haplotype (/founder effect) as well as c.1088G>A / p.Arg363Gly in a large pedigree from southern Italy initially reported by Leuzzi et al (2000 - PMID: 10881263).\r\n\r\nExtensive segregation analyses were carried out including several affected and unaffected members.\r\n\r\nRNF220 encodes ring finger protein 220, which functions as an E3 ubiquitin ligase. Previous studies have shown among others a role in modulation of Sonic hedgehog/GLI signaling and cerebellar development \r\n\r\nEvidence for the role of RNF220 included relevant expression, localization within the cell, interaction partners (lamin B1, 20S proteasome), similarities with other laminopathies in terms of phenotype, etc :\r\n*RNF220 has a relevant expression pattern in CNS (based on qRT-PCR analyses in human brain, cerebellum, cerebral cortex / mRNA levels in human fetal CNS with higher expression in cerebellum, spinal cord and cortex / previous GTEx data / protein levels in mouse CNS)\r\n*The protein displays nuclear localization based on iPSC cells differentiated to motor neurons (also supported by data from the Human Protein Atlas). Transfection of COS-1 cells  demonstrated localization primarily to the nucleus (as also previously demonstrated in HEK293T cells) in vesicle like structures with ASF2/SF2 colocalization suggesting enrichment in nuclear speckles. There was also partial co-distribution with the 20S proteasome. R363Q and R365Q additionally coalesced in the cytoplasm forming protein aggregates/inclusions.\r\n*Immunofluorescence studies in patient fibroblasts also confirmed abnormal increase of the protein in the cytoplasm and increased fluorescence with the 20S proteasome.\r\n*Proteomic identification of RNF220-interacting proteins in transfected HEK293T cells demonstrated enrichment for all members of the lamin protein family (incl . lamin B1, AC, B2). \r\n*RNAi-mediated downregulation of RNF222 in Drosophila suggested altered subcellular localization and accumulation of the fly orthologue for human lamin B1.\r\n*Immunoprecipitation of lamin B1 from the nuclear matrix of cerebellar cells suggested significant interaction of endogenous lamin B1 with RNF220, while transfection studies in HEK293T cells for wt/mt suggested reduced binding to endogenous lamin B1 for RNF220 mt compared to wt (more prominent for R365Q). RNF220 mutants also reduced ubiquitination of nuclear lamin B1 compared to wt.\r\n*Patient fibroblasts immunostained with different nuclear envelope markers displayed abnormal nuclear shapes with multiple invaginations and lobulations, findings also observed in laminopathies.\r\n\r\nThere is currently no associated phenotype in OMIM or G2P. SysID includes RNF220 among the current primary ID genes. \r\n\r\nConsider inclusion in panels for leukodystrophies, childhood onset ataxia, sensorineural hearing loss, corpus callosum anomalies, cardiomyopathies, hepatopathies, etc in all cases with green rating.\r\n\r\nSources: Literature, Other","entity_name":"RNF220","entity_type":"gene"},{"created":"2021-08-16T22:24:59.514981+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4059","user_name":"Konstantinos Varvagiannis","item_type":"entity","text":"gene: RNF220 was added\ngene: RNF220 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature,Other\nMode of inheritance for gene: RNF220 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNF220 were set to 33964137; 10881263\nPhenotypes for gene: RNF220 were set to Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum\nPenetrance for gene: RNF220 were set to Complete\nReview for gene: RNF220 was set to GREEN\nAdded comment: Sferra et al (2021 - PMID: 33964137) provide extensive evidence that biallelic RNF220 mutations cause a disorder characterized by hypomyelinating leukodystrophy, ataxia (9/9 - onset 1-5y), borderline intellectual functioning (3/9) / intellectual disability (5/9 - in most cases mild), sensorineural deafness (9/9) with complete hearing loss in the first decade of life, hepatopathy (9/9) with associated periportal fibrosis, and dilated cardiomyopathy (9/9) which was fatal.\r\n\r\nOther neurologic manifestations apart from ataxia incl. hyperreflexia (8/8), spastic paraplegia (9/9), dysarthria (9/9), peripheral neuropathy (4/9), seizures in one case (1/9). Upon brain MRI there was thin corpus callosum (9/9) or cerebellar atrophy in some (2/9).\r\n\r\nThe authors identified homozygosity for 2 recurrent missense RNF220 variants in affected members belonging to these 5 broad consanguineous pedigrees (7 families), namely NM_018150.4:c.1094G>A / p.Arg365Gly in 4 Roma families in the context of a shared haplotype (/founder effect) as well as c.1088G>A / p.Arg363Gly in a large pedigree from southern Italy initially reported by Leuzzi et al (2000 - PMID: 10881263).\r\n\r\nExtensive segregation analyses were carried out including several affected and unaffected members.\r\n\r\nRNF220 encodes ring finger protein 220, which functions as an E3 ubiquitin ligase. Previous studies have shown among others a role in modulation of Sonic hedgehog/GLI signaling and cerebellar development \r\n\r\nEvidence for the role of RNF220 included relevant expression, localization within the cell, interaction partners (lamin B1, 20S proteasome), similarities with other laminopathies in terms of phenotype, etc :\r\n*RNF220 has a relevant expression pattern in CNS (based on qRT-PCR analyses in human brain, cerebellum, cerebral cortex / mRNA levels in human fetal CNS with higher expression in cerebellum, spinal cord and cortex / previous GTEx data / protein levels in mouse CNS)\r\n*The protein displays nuclear localization based on iPSC cells differentiated to motor neurons (also supported by data from the Human Protein Atlas). Transfection of COS-1 cells  demonstrated localization primarily to the nucleus (as also previously demonstrated in HEK293T cells) in vesicle like structures with ASF2/SF2 colocalization suggesting enrichment in nuclear speckles. There was also partial co-distribution with the 20S proteasome. R363Q and R365Q additionally coalesced in the cytoplasm forming protein aggregates/inclusions.\r\n*Immunofluorescence studies in patient fibroblasts also confirmed abnormal increase of the protein in the cytoplasm and increased fluorescence with the 20S proteasome.\r\n*Proteomic identification of RNF220-interacting proteins in transfected HEK293T cells demonstrated enrichment for all members of the lamin protein family (incl . lamin B1, AC, B2). \r\n*RNAi-mediated downregulation of RNF222 in Drosophila suggested altered subcellular localization and accumulation of the fly orthologue for human lamin B1.\r\n*Immunoprecipitation of lamin B1 from the nuclear matrix of cerebellar cells suggested significant interaction of endogenous lamin B1 with RNF220, while transfection studies in HEK293T cells for wt/mt suggested reduced binding to endogenous lamin B1 for RNF220 mt compared to wt (more prominent for R365Q). RNF220 mutants also reduced ubiquitination of nuclear lamin B1 compared to wt.\r\n*Patient fibroblasts immunostained with different nuclear envelope markers displayed abnormal nuclear shapes with multiple invaginations and lobulations, findings also observed in laminopathies.\r\n\r\nThere is currently no associated phenotype in OMIM or G2P. SysID includes RNF220 among the current primary ID genes. \nSources: Literature, Other","entity_name":"RNF220","entity_type":"gene"},{"created":"2021-08-16T18:32:59.383933+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Association with Kabuki syndrome: failure to thrive in infancy and short stature are key features.\r\n\r\nNote new association between missense variants located in a specific region spanning exons 38 and 39 and affecting highly conserved residues cause a novel multiple malformations syndrome distinct from Kabuki syndrome, through a dominant negative mechanism. \r\n~10 unrelated families with choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. None of the individuals had intellectual disability.; to: Association with Kabuki syndrome: failure to thrive in infancy and short stature are key features.\r\n\r\nNote new association between missense variants located in a specific region spanning exons 38 and 39 and affecting highly conserved residues cause a novel multiple malformations syndrome distinct from Kabuki syndrome, through a dominant negative mechanism. \r\n~10 unrelated families with choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. None of the individuals had intellectual disability. Extreme short stature reported.","entity_name":"KMT2D","entity_type":"gene"},{"created":"2021-08-16T18:30:31.676176+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KMT2D were changed from Kabuki syndrome 1, MIM# 147920 to Kabuki syndrome 1, MIM# 147920; KMT2D-associated neurodevelopmental syndrome","entity_name":"KMT2D","entity_type":"gene"},{"created":"2021-08-16T18:30:22.347130+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KMT2D were set to 21882399","entity_name":"KMT2D","entity_type":"gene"},{"created":"2021-08-16T18:30:09.952680+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.165","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Failure to thrive in infancy and short stature are key features.; to: Association with Kabuki syndrome: failure to thrive in infancy and short stature are key features.\r\n\r\nNote new association between missense variants located in a specific region spanning exons 38 and 39 and affecting highly conserved residues cause a novel multiple malformations syndrome distinct from Kabuki syndrome, through a dominant negative mechanism. \r\n~10 unrelated families with choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. None of the individuals had intellectual disability.","entity_name":"KMT2D","entity_type":"gene"},{"created":"2021-08-16T18:29:10.531916+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.165","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KMT2D: Changed publications: 31949313, 32083401, 21882399; Changed phenotypes: Kabuki syndrome 1, MIM# 147920, KMT2D-associated neurodevelopmental syndrome","entity_name":"KMT2D","entity_type":"gene"},{"created":"2021-08-16T18:26:53.420763+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.165","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KMT2D were set to ","entity_name":"KMT2D","entity_type":"gene"},{"created":"2021-08-16T18:26:43.703106+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KMT2D: Changed publications: 21882399","entity_name":"KMT2D","entity_type":"gene"},{"created":"2021-08-16T18:26:16.959541+10:00","panel_name":"Growth failure in early childhood","panel_id":3631,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KMT2D as ready","entity_name":"KMT2D","entity_type":"gene"}]}