{"count":220790,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1253","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1251","results":[{"created":"2021-08-04T08:26:42.083444+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8629","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ERBB3: Changed phenotypes: Lethal congenital contractural syndrome 2, MIM# 607598, Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180, Complex neurocristinopathy","entity_name":"ERBB3","entity_type":"gene"},{"created":"2021-08-04T08:26:21.453598+10:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERBB3 were changed from Complex neurocristinopathy to Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180; Complex neurocristinopathy","entity_name":"ERBB3","entity_type":"gene"},{"created":"2021-08-04T08:24:32.660109+10:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ERBB3: Changed phenotypes: Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180, Complex neurocristinopathy","entity_name":"ERBB3","entity_type":"gene"},{"created":"2021-08-03T19:43:49.543724+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8629","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IL7R as ready","entity_name":"IL7R","entity_type":"gene"},{"created":"2021-08-03T19:43:49.534212+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8629","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: il7r has been classified as Green List (High Evidence).","entity_name":"IL7R","entity_type":"gene"},{"created":"2021-08-03T19:43:06.281369+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8629","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IL7R were changed from  to Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971; fever; rash; failure to thrive; recurrent respiratory and gastric infections; diarrhoea; lymphadenopathy; pneumonitis; Pancytopaenia; low T-cell numbers; decreased immunoglobulins; normal-high B/NK-cell numbers.","entity_name":"IL7R","entity_type":"gene"},{"created":"2021-08-03T19:42:41.368745+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8628","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IL7R were set to ","entity_name":"IL7R","entity_type":"gene"},{"created":"2021-08-03T19:42:21.600978+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8627","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IL7R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IL7R","entity_type":"gene"},{"created":"2021-08-03T19:41:10.831223+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ITK as ready","entity_name":"ITK","entity_type":"gene"},{"created":"2021-08-03T19:41:10.820781+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itk has been classified as Green List (High Evidence).","entity_name":"ITK","entity_type":"gene"},{"created":"2021-08-03T19:41:03.929253+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ITK were changed from  to Lymphoproliferative syndrome 1 MIM# 613011; Lymphadenopathy; Recurrent infections; Hypogammaglobulinaemia; Evidence of EBV infection; EBV associated B cell Lymphoproliferation; High EBV viral load; Normal-low serum Ig; Depleted CD4+ T cells; Anaemia; Thrombocytopaenia; Hepatosplenomegaly","entity_name":"ITK","entity_type":"gene"},{"created":"2021-08-03T19:40:33.827522+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.267","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ITK were set to ","entity_name":"ITK","entity_type":"gene"},{"created":"2021-08-03T19:39:59.033357+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.266","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ITK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ITK","entity_type":"gene"},{"created":"2021-08-03T19:38:55.818614+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8626","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MALT1 as ready","entity_name":"MALT1","entity_type":"gene"},{"created":"2021-08-03T19:38:55.808725+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8626","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: malt1 has been classified as Green List (High Evidence).","entity_name":"MALT1","entity_type":"gene"},{"created":"2021-08-03T19:38:36.283281+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8626","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MALT1 were changed from  to Immunodeficiency 12 MIM# 615468; poor T-cell proliferation; normal T/B cell numbers; poor specific antibody response; recurrent bacterial/fungal/viral infections; bronchiectasis; failure to thrive","entity_name":"MALT1","entity_type":"gene"},{"created":"2021-08-03T19:25:51.815107+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8625","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MALT1 were set to ","entity_name":"MALT1","entity_type":"gene"},{"created":"2021-08-03T18:41:36.405006+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8624","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MALT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MALT1","entity_type":"gene"},{"created":"2021-08-03T18:40:10.475072+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IL2RG as ready","entity_name":"IL2RG","entity_type":"gene"},{"created":"2021-08-03T18:40:10.460506+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: il2rg has been classified as Green List (High Evidence).","entity_name":"IL2RG","entity_type":"gene"},{"created":"2021-08-03T18:40:07.132087+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IL2RG were changed from  to Combined immunodeficiency, X-linked, moderate MIM# 312863; Severe combined immunodeficiency, X-linked MIM# 300400; recurrent viral/fungal/bacterial infections; Low T/NK cells; Low Ig levels; lymphocytopaenia; hypogammaglobulinaemia; failure to thrive; diarrhoea; Pneumonia; Thymic hypoplasia","entity_name":"IL2RG","entity_type":"gene"},{"created":"2021-08-03T18:39:41.739540+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IL2RG were set to ","entity_name":"IL2RG","entity_type":"gene"},{"created":"2021-08-03T18:39:16.657900+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IL2RG was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"IL2RG","entity_type":"gene"},{"created":"2021-08-03T18:38:49.656438+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IL2RG: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301584, 8462096, 8401490, 7883965, 9399950; Phenotypes: Combined immunodeficiency, X-linked, moderate MIM# 312863, Severe combined immunodeficiency, X-linked MIM# 300400, recurrent viral/fungal/bacterial infections, Low T/NK cells, Low Ig levels, lymphocytopaenia, hypogammaglobulinaemia, failure to thrive, diarrhoea, Pneumonia, Thymic hypoplasia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"IL2RG","entity_type":"gene"},{"created":"2021-08-03T18:38:11.161737+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8623","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IL2RG as ready","entity_name":"IL2RG","entity_type":"gene"},{"created":"2021-08-03T18:38:11.151392+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8623","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: il2rg has been classified as Green List (High Evidence).","entity_name":"IL2RG","entity_type":"gene"},{"created":"2021-08-03T18:37:45.526585+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8623","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IL2RG were changed from  to Combined immunodeficiency, X-linked, moderate MIM# 312863; Severe combined immunodeficiency, X-linked MIM# 300400; recurrent viral/fungal/bacterial infections; Low T/NK cells; Low Ig levels; lymphocytopaenia; hypogammaglobulinaemia; failure to thrive; diarrhoea; Pneumonia; Thymic hypoplasia","entity_name":"IL2RG","entity_type":"gene"},{"created":"2021-08-03T18:37:25.095992+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8622","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IL2RG were set to ","entity_name":"IL2RG","entity_type":"gene"},{"created":"2021-08-03T18:36:38.267316+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8621","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IL2RG was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"IL2RG","entity_type":"gene"},{"created":"2021-08-03T18:36:18.072871+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8620","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IL2RG: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301584, 8462096, 8401490, 7883965, 9399950; Phenotypes: Combined immunodeficiency, X-linked, moderate MIM# 312863, Severe combined immunodeficiency, X-linked MIM# 300400, recurrent viral/fungal/bacterial infections, Low T/NK cells, Low Ig levels, lymphocytopaenia, hypogammaglobulinaemia, failure to thrive, diarrhoea, Pneumonia, Thymic hypoplasia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"IL2RG","entity_type":"gene"},{"created":"2021-08-03T18:34:30.571681+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8620","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IKZF1 as ready","entity_name":"IKZF1","entity_type":"gene"},{"created":"2021-08-03T18:34:30.561040+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8620","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ikzf1 has been classified as Green List (High Evidence).","entity_name":"IKZF1","entity_type":"gene"},{"created":"2021-08-03T18:34:13.783021+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8620","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IKZF1 were changed from  to Immunodeficiency, common variable, 13 MIM# 616873; recurrent bacterial respiratory infections; Thrombocytopaenia; immunodeficiency; Hypogammaglobulinaemia; decrease B-cells; decrease B-cell differentiation; decrease memory B/T cells; Low Ig; pneumocystis early CID onset","entity_name":"IKZF1","entity_type":"gene"},{"created":"2021-08-03T18:33:53.071518+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8619","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IKZF1 were set to ","entity_name":"IKZF1","entity_type":"gene"},{"created":"2021-08-03T18:33:22.136266+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8618","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IKZF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"IKZF1","entity_type":"gene"},{"created":"2021-08-03T18:33:04.721972+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8617","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IKZF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21548011, 26981933, 29889099, 31057532, 7923373, 11805317; Phenotypes: Immunodeficiency, common variable, 13 MIM# 616873, recurrent bacterial respiratory infections, Thrombocytopaenia, immunodeficiency, Hypogammaglobulinaemia, decrease B-cells, decrease B-cell differentiation, decrease memory B/T cells, Low Ig, pneumocystis early CID onset; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"IKZF1","entity_type":"gene"},{"created":"2021-08-03T16:58:53.322342+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.265","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LIG4 as ready","entity_name":"LIG4","entity_type":"gene"},{"created":"2021-08-03T16:58:53.312650+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.265","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lig4 has been classified as Green List (High Evidence).","entity_name":"LIG4","entity_type":"gene"},{"created":"2021-08-03T16:57:51.291337+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.265","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LIG4 were changed from  to LIG4 syndrome MIM# 606593; T-/B- lymphocytopaenia; Normal NK, radiation sensitivity; Microcephaly; low B/C cells; low Ig; raised IgM; failure to thrive; bacterial/viral/fungal infections; hypogammaglobulinaemia; neurodevelopmental delay; microcephaly; pancytopaenia","entity_name":"LIG4","entity_type":"gene"},{"created":"2021-08-03T16:57:26.141529+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.264","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LIG4 were set to ","entity_name":"LIG4","entity_type":"gene"},{"created":"2021-08-03T16:56:57.988188+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.263","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LIG4","entity_type":"gene"},{"created":"2021-08-03T16:55:42.903984+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8617","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ITK as ready","entity_name":"ITK","entity_type":"gene"},{"created":"2021-08-03T16:55:42.892450+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8617","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itk has been classified as Green List (High Evidence).","entity_name":"ITK","entity_type":"gene"},{"created":"2021-08-03T16:55:26.392765+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.262","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IL7R as ready","entity_name":"IL7R","entity_type":"gene"},{"created":"2021-08-03T16:55:26.383551+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.262","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: il7r has been classified as Green List (High Evidence).","entity_name":"IL7R","entity_type":"gene"},{"created":"2021-08-03T16:55:23.430492+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.262","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IL7R were changed from  to Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971; fever; rash; failure to thrive; recurrent respiratory and gastric infections; diarrhoea; lymphadenopathy; pneumonitis; Pancytopaenia; low T-cell numbers; decreased immunoglobulins; normal-high B/NK-cell numbers.","entity_name":"IL7R","entity_type":"gene"},{"created":"2021-08-03T16:54:59.051309+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.261","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IL7R were set to ","entity_name":"IL7R","entity_type":"gene"},{"created":"2021-08-03T16:54:53.095126+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8617","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ITK were changed from  to Lymphoproliferative syndrome 1 MIM# 613011; Lymphadenopathy; Recurrent infections; Hypogammaglobulinaemia; Evidence of EBV infection; EBV associated B cell Lymphoproliferation; High EBV viral load; Normal-low serum Ig; Depleted CD4+ T cells; Anaemia; Thrombocytopaenia; Hepatosplenomegaly","entity_name":"ITK","entity_type":"gene"},{"created":"2021-08-03T16:53:28.962585+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.260","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IL7R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IL7R","entity_type":"gene"},{"created":"2021-08-03T16:52:31.842139+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8616","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ITK were set to ","entity_name":"ITK","entity_type":"gene"},{"created":"2021-08-03T16:52:07.352138+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8615","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ITK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ITK","entity_type":"gene"},{"created":"2021-08-03T16:49:19.090959+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.259","user_name":"Danielle Ariti","item_type":"entity","text":"Deleted their comment","entity_name":"MALT1","entity_type":"gene"},{"created":"2021-08-03T16:49:13.694238+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.259","user_name":"Danielle Ariti","item_type":"entity","text":"edited their review of gene: MALT1: Added comment: 5 individuals from 3 unrelated families with immunodeficiency phenotype have reported variants in MALT1; two MALT1-knockout mouse models displaying primary T- and B-cell lymphocyte deficiency.\r\n\r\nVariants identified were homozygous missense variants resulting in the alteration of highly conserved residue domains.\r\n\r\nAll individuals reported onset in infancy of recurrent bacterial/ fungal/ viral infections leading to bronchiectasis and poor T-cell proliferation.; Changed rating: GREEN","entity_name":"MALT1","entity_type":"gene"},{"created":"2021-08-03T16:48:56.020844+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.259","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MALT1 were changed from Immunodeficiency 12 MIM# 615468; poor T-cell proliferation; normal T/B cell numbers; poor specific antibody response; recurrent bacterial/fungal/viral infections; bronchiectasis; failure to thrive to Immunodeficiency 12 MIM# 615468; poor T-cell proliferation; normal T/B cell numbers; poor specific antibody response; recurrent bacterial/fungal/viral infections; bronchiectasis; failure to thrive","entity_name":"MALT1","entity_type":"gene"},{"created":"2021-08-03T16:48:53.094991+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.259","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MALT1 as ready","entity_name":"MALT1","entity_type":"gene"},{"created":"2021-08-03T16:48:53.081406+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.259","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: malt1 has been classified as Green List (High Evidence).","entity_name":"MALT1","entity_type":"gene"},{"created":"2021-08-03T16:48:40.058889+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.259","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MALT1 were changed from  to Immunodeficiency 12 MIM# 615468; poor T-cell proliferation; normal T/B cell numbers; poor specific antibody response; recurrent bacterial/fungal/viral infections; bronchiectasis; failure to thrive","entity_name":"MALT1","entity_type":"gene"},{"created":"2021-08-03T16:48:24.766740+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8614","user_name":"Danielle Ariti","item_type":"entity","text":"Deleted their comment","entity_name":"MALT1","entity_type":"gene"},{"created":"2021-08-03T16:48:21.499925+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.258","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IL2RG as ready","entity_name":"IL2RG","entity_type":"gene"},{"created":"2021-08-03T16:48:21.485481+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.258","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: il2rg has been classified as Green List (High Evidence).","entity_name":"IL2RG","entity_type":"gene"},{"created":"2021-08-03T16:48:06.918071+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8614","user_name":"Danielle Ariti","item_type":"entity","text":"edited their review of gene: MALT1: Added comment: 5 individuals from 3 unrelated families with immunodeficiency phenotype have reported variants in MALT1; two MALT1-knockout mouse models displaying primary T- and B-cell lymphocyte deficiency.\r\n\r\nVariants identified were homozygous missense variants resulting in the alteration of highly conserved residue domains.\r\n\r\nAll individuals reported onset in infancy of recurrent bacterial/ fungal/ viral infections leading to bronchiectasis and poor T-cell proliferation.; Changed rating: GREEN","entity_name":"MALT1","entity_type":"gene"},{"created":"2021-08-03T16:48:01.409916+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.258","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MALT1 were set to ","entity_name":"MALT1","entity_type":"gene"},{"created":"2021-08-03T16:47:19.755913+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.257","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MALT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MALT1","entity_type":"gene"},{"created":"2021-08-03T16:44:42.713085+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.256","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IL2RG were changed from  to Combined immunodeficiency, X-linked, moderate MIM# 312863; Severe combined immunodeficiency, X-linked MIM# 300400; recurrent viral/fungal/bacterial infections; Low T/NK cells; Low Ig levels; lymphocytopaenia; hypogammaglobulinaemia; failure to thrive; diarrhoea; Pneumonia; Thymic hypoplasia","entity_name":"IL2RG","entity_type":"gene"},{"created":"2021-08-03T16:44:04.910094+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IL2RG were set to 20301584; 8462096; 8401490; 7883965; 9399950","entity_name":"IL2RG","entity_type":"gene"},{"created":"2021-08-03T16:43:49.134749+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IKZF1 as ready","entity_name":"IKZF1","entity_type":"gene"},{"created":"2021-08-03T16:43:49.122662+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ikzf1 has been classified as Green List (High Evidence).","entity_name":"IKZF1","entity_type":"gene"},{"created":"2021-08-03T16:43:41.881431+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IKZF1 were changed from  to Immunodeficiency, common variable, 13 MIM# 616873; recurrent bacterial respiratory infections; Thrombocytopaenia; immunodeficiency; Hypogammaglobulinaemia; decrease B-cells; decrease B-cell differentiation; decrease memory B/T cells; Low Ig; pneumocystis early CID onset","entity_name":"IKZF1","entity_type":"gene"},{"created":"2021-08-03T16:43:20.489300+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.254","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IL2RG were set to ","entity_name":"IL2RG","entity_type":"gene"},{"created":"2021-08-03T16:43:04.472702+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.254","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IKZF1 were set to 21548011; 26981933; 29889099; 31057532; 7923373; 11805317","entity_name":"IKZF1","entity_type":"gene"},{"created":"2021-08-03T16:42:42.494576+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IL2RG was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"IL2RG","entity_type":"gene"},{"created":"2021-08-03T16:42:27.137978+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IKZF1 were set to ","entity_name":"IKZF1","entity_type":"gene"},{"created":"2021-08-03T16:42:05.999724+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IL2RG was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"IL2RG","entity_type":"gene"},{"created":"2021-08-03T16:41:30.863990+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.252","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IKZF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"IKZF1","entity_type":"gene"},{"created":"2021-08-03T16:41:15.574549+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.252","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IKZF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"IKZF1","entity_type":"gene"},{"created":"2021-08-03T16:39:08.197809+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1155","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP1G1 as ready","entity_name":"AP1G1","entity_type":"gene"},{"created":"2021-08-03T16:39:08.181595+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1155","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap1g1 has been classified as Green List (High Evidence).","entity_name":"AP1G1","entity_type":"gene"},{"created":"2021-08-03T16:39:02.758579+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1155","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AP1G1 as Green List (high evidence)","entity_name":"AP1G1","entity_type":"gene"},{"created":"2021-08-03T16:39:02.747937+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1155","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap1g1 has been classified as Green List (High Evidence).","entity_name":"AP1G1","entity_type":"gene"},{"created":"2021-08-03T16:38:32.696392+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4024","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP1G1 as ready","entity_name":"AP1G1","entity_type":"gene"},{"created":"2021-08-03T16:38:32.688105+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4024","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap1g1 has been classified as Green List (High Evidence).","entity_name":"AP1G1","entity_type":"gene"},{"created":"2021-08-03T16:38:32.568844+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4024","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP1G1 as ready","entity_name":"AP1G1","entity_type":"gene"},{"created":"2021-08-03T16:38:32.557158+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4024","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap1g1 has been classified as Green List (High Evidence).","entity_name":"AP1G1","entity_type":"gene"},{"created":"2021-08-03T16:38:26.238050+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4024","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AP1G1 as Green List (high evidence)","entity_name":"AP1G1","entity_type":"gene"},{"created":"2021-08-03T16:38:26.229288+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4024","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap1g1 has been classified as Green List (High Evidence).","entity_name":"AP1G1","entity_type":"gene"},{"created":"2021-08-03T16:37:51.109227+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4023","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Two bi-allelic homozygous missense variants were found in two distinct families with Italian and Pakistani origins; homozygous missense variants.\r\n\r\nEight de novo heterozygous variants were identified in nine isolated affected individuals from nine families; including five missense, two frameshift, and one intronic variant that disrupts the canonical splice acceptor site.\r\n\r\nKnocking out AP1G1 Zebrafish model resulted in severe developmental abnormalities and increased lethality. \r\n\r\nAll individuals had neurodevelopmental disorder (NDD) including global developmental delay and ID, which varied in severity from mild to severe. \nSources: Literature; to: Two bi-allelic homozygous missense variants were found in two distinct families with Italian and Pakistani origins; homozygous missense variants.\r\n\r\nEight de novo heterozygous variants were identified in nine isolated affected individuals from nine families; including five missense, two frameshift, and one intronic variant that disrupts the canonical splice acceptor site.\r\n\r\nKnocking out AP1G1 Zebrafish model resulted in severe developmental abnormalities and increased lethality. \r\n\r\nAll individuals had neurodevelopmental disorder (NDD) including global developmental delay and ID, which varied in severity from mild to severe. \r\n\r\nGREEN for mono-allelic, AMBER for bi-allelic.\r\nSources: Literature","entity_name":"AP1G1","entity_type":"gene"},{"created":"2021-08-03T16:37:29.848352+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4023","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AP1G1 was added\ngene: AP1G1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: AP1G1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: AP1G1 were set to 34102099\nPhenotypes for gene: AP1G1 were set to Neurodevelopmental disorder (NDD); Intellectual Disability; Epilepsy\nReview for gene: AP1G1 was set to GREEN\nAdded comment: Two bi-allelic homozygous missense variants were found in two distinct families with Italian and Pakistani origins; homozygous missense variants.\r\n\r\nEight de novo heterozygous variants were identified in nine isolated affected individuals from nine families; including five missense, two frameshift, and one intronic variant that disrupts the canonical splice acceptor site.\r\n\r\nKnocking out AP1G1 Zebrafish model resulted in severe developmental abnormalities and increased lethality. \r\n\r\nAll individuals had neurodevelopmental disorder (NDD) including global developmental delay and ID, which varied in severity from mild to severe. \nSources: Literature","entity_name":"AP1G1","entity_type":"gene"},{"created":"2021-08-03T16:37:13.293817+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1154","user_name":"Danielle Ariti","item_type":"entity","text":"gene: AP1G1 was added\ngene: AP1G1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: AP1G1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: AP1G1 were set to 34102099\nPhenotypes for gene: AP1G1 were set to Neurodevelopmental disorder (NDD); Intellectual Disability; Epilepsy\nReview for gene: AP1G1 was set to GREEN\nAdded comment: Two bi-allelic homozygous missense variants were found in two distinct families with Italian and Pakistani origins; homozygous missense variants.\r\n\r\nEight de novo heterozygous variants were identified in nine isolated affected individuals from nine families; including five missense, two frameshift, and one intronic variant that disrupts the canonical splice acceptor site.\r\n\r\nKnocking out AP1G1 Zebrafish model resulted in severe developmental abnormalities and increased lethality. \r\n\r\nAll individuals had neurodevelopmental disorder (NDD) including global developmental delay and ID, which varied in severity from mild to severe. \nSources: Literature","entity_name":"AP1G1","entity_type":"gene"},{"created":"2021-08-03T15:35:40.502747+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.251","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27717373, 10911993; Phenotypes: LIG4 syndrome MIM# 606593, T-/B- lymphocytopaenia, Normal NK, radiation sensitivity, Microcephaly, low B/C cells, low Ig, raised IgM, failure to thrive, bacterial/viral/fungal infections, hypogammaglobulinaemia, neurodevelopmental delay, microcephaly, pancytopaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LIG4","entity_type":"gene"},{"created":"2021-08-03T14:16:09.132931+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8614","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: IL7R: Rating: GREEN; Mode of pathogenicity: None; Publications: 9843216, 19890784, 26123418, 11023514, 7964471; Phenotypes: Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971, fever, rash, failure to thrive, recurrent respiratory and gastric infections, diarrhoea, lymphadenopathy, pneumonitis, Pancytopaenia, low T-cell numbers, decreased immunoglobulins, normal-high B/NK-cell numbers.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IL7R","entity_type":"gene"},{"created":"2021-08-03T14:15:49.546928+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.251","user_name":"Danielle Ariti","item_type":"entity","text":"changed review comment from: 6 unrelated individuals with 9 unique variants (missense, splicing, nonsense, and frameshift) have been reported). \r\n\r\nTwo IL7R null mice models demonstrating a phenotype consistent with T cell Lymphopaenia\r\n\r\nTypical patient immunological phenotype consisted of Low B-cells, decreased immunoglobulins with normal-high B/NK cell numbers.; to: 6 unrelated individuals with 9 unique variants (missense, splicing, nonsense, and frameshift) have been reported. \r\n\r\nTwo IL7R null mice models demonstrating a phenotype consistent with T cell Lymphopaenia\r\n\r\nTypical patient immunological phenotype consisted of Low B-cells, decreased immunoglobulins with normal-high B/NK cell numbers.","entity_name":"IL7R","entity_type":"gene"},{"created":"2021-08-03T14:14:15.203510+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.251","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: IL7R: Rating: GREEN; Mode of pathogenicity: None; Publications: 9843216, 19890784, 26123418, 11023514, 7964471; Phenotypes: Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971, fever, rash, failure to thrive, recurrent respiratory and gastric infections, diarrhoea, lymphadenopathy, pneumonitis, Pancytopaenia, low T-cell numbers, decreased immunoglobulins, normal-high B/NK-cell numbers.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IL7R","entity_type":"gene"},{"created":"2021-08-03T13:43:25.104698+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8614","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: ITK: Rating: GREEN; Mode of pathogenicity: None; Publications: 19425169, 22289921, 25061172, 26056787, 9311799, 10213685; Phenotypes: Lymphoproliferative syndrome 1 MIM# 613011, Lymphadenopathy, Recurrent infections, Hypogammaglobulinaemia, Evidence of EBV infection, EBV associated B cell Lymphoproliferation, High EBV viral load, Normal-low serum Ig, Depleted CD4+ T cells, Anaemia, Thrombocytopaenia, Hepatosplenomegaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ITK","entity_type":"gene"},{"created":"2021-08-03T13:40:23.760737+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8614","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: MALT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23727036, 24332264, 14576442, 31037583; Phenotypes: Immunodeficiency 12 MIM# 615468, poor T-cell proliferation, normal T/B cell numbers, poor specific antibody response, recurrent bacterial/fungal/viral infections, bronchiectasis, failure to thrive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MALT1","entity_type":"gene"},{"created":"2021-08-03T13:23:23.023774+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.251","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: ITK: Rating: GREEN; Mode of pathogenicity: None; Publications: 19425169, 22289921, 25061172, 26056787, 9311799, 10213685; Phenotypes: Lymphoproliferative syndrome 1 MIM# 613011, Lymphadenopathy, Recurrent infections, Hypogammaglobulinaemia, Evidence of EBV infection, EBV associated B cell Lymphoproliferation, High EBV viral load, Normal-low serum Ig, Depleted CD4+ T cells, Anaemia, Thrombocytopaenia, Hepatosplenomegaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ITK","entity_type":"gene"},{"created":"2021-08-03T11:58:59.577881+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.251","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: MALT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23727036, 24332264, 14576442, 31037583; Phenotypes: Immunodeficiency 12 MIM# 615468, poor T-cell proliferation, normal T/B cell numbers, poor specific antibody response, recurrent bacterial/fungal/viral infections, bronchiectasis, failure to thrive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MALT1","entity_type":"gene"},{"created":"2021-08-03T11:00:19.300859+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.251","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: IL2RG: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301584, 8462096, 8401490, 7883965, 9399950; Phenotypes: Combined immunodeficiency, X-linked, moderate MIM# 312863, Severe combined immunodeficiency, X-linked MIM# 300400, recurrent viral/fungal/bacterial infections, Low T/NK cells, Low Ig levels, lymphocytopaenia, hypogammaglobulinaemia, failure to thrive, diarrhoea, Pneumonia, Thymic hypoplasia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"IL2RG","entity_type":"gene"},{"created":"2021-08-03T10:03:13.841159+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.251","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: IKZF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21548011, 26981933, 29889099, 31057532, 7923373, 11805317; Phenotypes: Immunodeficiency, common variable, 13 MIM# 616873, recurrent bacterial respiratory infections, Thrombocytopaenia, immunodeficiency, Hypogammaglobulinaemia, decrease B-cells, decrease B-cell differentiation, decrease memory B/T cells, Low Ig, pneumocystis early CID onset; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"IKZF1","entity_type":"gene"},{"created":"2021-08-02T21:04:29.752071+10:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLCB4 as ready","entity_name":"PLCB4","entity_type":"gene"},{"created":"2021-08-02T21:04:29.742257+10:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plcb4 has been classified as Green List (High Evidence).","entity_name":"PLCB4","entity_type":"gene"}]}