{"count":220790,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1252","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1250","results":[{"created":"2021-08-05T19:01:22.066530+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8651","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NFKB1 as ready","entity_name":"NFKB1","entity_type":"gene"},{"created":"2021-08-05T19:01:22.055932+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8651","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nfkb1 has been classified as Green List (High Evidence).","entity_name":"NFKB1","entity_type":"gene"},{"created":"2021-08-05T19:00:59.348657+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8651","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NFKB1 were changed from  to Immunodeficiency, common variable, 12 MIM# 616576; Normal-low IgG, IgA, IgM; low-normal B cells; low switched memory B cells; hypogammaglobulinaemia; recurrent respiratory and gastrointestinal infections; Chronic obstructive pulmonary disease COPD; EBV proliferation; autoimmunity; alopecia","entity_name":"NFKB1","entity_type":"gene"},{"created":"2021-08-05T19:00:32.101732+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8650","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NFKB1 were set to ","entity_name":"NFKB1","entity_type":"gene"},{"created":"2021-08-05T19:00:15.168801+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8649","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NFKB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NFKB1","entity_type":"gene"},{"created":"2021-08-05T18:59:01.201326+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.282","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NFKB1 as ready","entity_name":"NFKB1","entity_type":"gene"},{"created":"2021-08-05T18:59:01.187790+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.282","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nfkb1 has been classified as Green List (High Evidence).","entity_name":"NFKB1","entity_type":"gene"},{"created":"2021-08-05T18:58:58.002526+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.282","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NFKB1 were changed from  to Immunodeficiency, common variable, 12 MIM# 616576; Normal-low IgG, IgA, IgM; low-normal B cells; low switched memory B cells; hypogammaglobulinaemia; recurrent respiratory and gastrointestinal infections; Chronic obstructive pulmonary disease COPD; EBV proliferation; autoimmunity; alopecia","entity_name":"NFKB1","entity_type":"gene"},{"created":"2021-08-05T18:58:33.518653+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.281","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NFKB1 were set to ","entity_name":"NFKB1","entity_type":"gene"},{"created":"2021-08-05T18:56:40.933345+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.280","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NFKB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NFKB1","entity_type":"gene"},{"created":"2021-08-05T18:55:42.584249+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MCM4: Rating: AMBER; Mode of pathogenicity: None; Publications: 22354167, 22354170, 22499342; Phenotypes: Immunodeficiency 54, MIM# 609981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MCM4","entity_type":"gene"},{"created":"2021-08-05T18:54:11.383496+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8648","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MCM4 as ready","entity_name":"MCM4","entity_type":"gene"},{"created":"2021-08-05T18:54:11.373376+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8648","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcm4 has been classified as Amber List (Moderate Evidence).","entity_name":"MCM4","entity_type":"gene"},{"created":"2021-08-05T18:53:55.063861+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8648","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MCM4 were changed from  to Immunodeficiency 54 MIM# 609981; Decreased NK cell number and function; Viral infections (EBV, HSV, VZV); Short stature; B cell lymphoma; Adrenal failure; Failure to thrive; Microcephaly; Increased chromosomal breakage; Hyperpigmentation; Lymphadenopathy","entity_name":"MCM4","entity_type":"gene"},{"created":"2021-08-05T18:53:35.329837+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8647","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MCM4 were set to ","entity_name":"MCM4","entity_type":"gene"},{"created":"2021-08-05T18:53:15.367689+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8646","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MCM4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MCM4","entity_type":"gene"},{"created":"2021-08-05T18:52:57.231929+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8645","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MCM4 as Amber List (moderate evidence)","entity_name":"MCM4","entity_type":"gene"},{"created":"2021-08-05T18:52:57.221873+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8645","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcm4 has been classified as Amber List (Moderate Evidence).","entity_name":"MCM4","entity_type":"gene"},{"created":"2021-08-05T18:52:39.660302+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8644","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: MCM4.","entity_name":"MCM4","entity_type":"gene"},{"created":"2021-08-05T18:52:28.335319+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8644","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MCM4: Rating: AMBER; Mode of pathogenicity: None; Publications: 22354167, 22354170, 22499342; Phenotypes: Immunodeficiency 54 MIM# 609981, Decreased NK cell number and function, Viral infections (EBV, HSV, VZV), Short stature, B cell lymphoma, Adrenal failure, Failure to thrive, Microcephaly, Increased chromosomal breakage, Hyperpigmentation, Lymphadenopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MCM4","entity_type":"gene"},{"created":"2021-08-05T18:52:19.948657+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: MCM4.","entity_name":"MCM4","entity_type":"gene"},{"created":"2021-08-05T18:51:35.781302+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MCM4 as ready","entity_name":"MCM4","entity_type":"gene"},{"created":"2021-08-05T18:51:35.766007+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcm4 has been classified as Amber List (Moderate Evidence).","entity_name":"MCM4","entity_type":"gene"},{"created":"2021-08-05T18:51:32.555683+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MCM4 were changed from  to Immunodeficiency 54 MIM# 609981; Decreased NK cell number and function; Viral infections (EBV, HSV, VZV); Short stature; B cell lymphoma; Adrenal failure; Failure to thrive; Microcephaly; Increased chromosomal breakage; Hyperpigmentation; Lymphadenopathy","entity_name":"MCM4","entity_type":"gene"},{"created":"2021-08-05T18:51:06.725638+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MCM4 were set to ","entity_name":"MCM4","entity_type":"gene"},{"created":"2021-08-05T18:50:34.835414+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.277","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MCM4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MCM4","entity_type":"gene"},{"created":"2021-08-05T18:49:48.771488+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MCM4 as Amber List (moderate evidence)","entity_name":"MCM4","entity_type":"gene"},{"created":"2021-08-05T18:49:48.755374+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcm4 has been classified as Amber List (Moderate Evidence).","entity_name":"MCM4","entity_type":"gene"},{"created":"2021-08-05T18:44:35.169507+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8644","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAP3K14 as ready","entity_name":"MAP3K14","entity_type":"gene"},{"created":"2021-08-05T18:44:35.159304+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8644","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: map3k14 has been classified as Green List (High Evidence).","entity_name":"MAP3K14","entity_type":"gene"},{"created":"2021-08-05T18:27:44.626892+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8644","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAP3K14 were changed from  to NIK deficiency; Poor T cell proliferation to antigen; Low B-cell numbers; Low NK number and function; recurrent bacterial/viral/ cryptosporidium infections; hypogammaglobulinaemia; decreased immunoglobulin levels","entity_name":"MAP3K14","entity_type":"gene"},{"created":"2021-08-05T18:27:09.361223+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8643","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAP3K14 were set to ","entity_name":"MAP3K14","entity_type":"gene"},{"created":"2021-08-05T18:26:52.974954+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8642","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MAP3K14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MAP3K14","entity_type":"gene"},{"created":"2021-08-05T18:25:08.649626+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8641","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MAP3K14: Rating: GREEN; Mode of pathogenicity: None; Publications: 10319865, 11238593, 12352969; Phenotypes: NIK deficiency, Poor T cell proliferation to antigen, Low B-cell numbers, Low NK number and function, recurrent bacterial/viral/ cryptosporidium infections, hypogammaglobulinaemia, decreased immunoglobulin levels; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MAP3K14","entity_type":"gene"},{"created":"2021-08-05T18:24:05.033022+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.275","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAP3K14 as ready","entity_name":"MAP3K14","entity_type":"gene"},{"created":"2021-08-05T18:24:05.028926+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.275","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Extensive functional characterisation in mouse models, see also PMIDs 10319865; 11238593; 12352969, hence Green rating with two families reported only.","entity_name":"MAP3K14","entity_type":"gene"},{"created":"2021-08-05T18:24:04.992034+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.275","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: map3k14 has been classified as Green List (High Evidence).","entity_name":"MAP3K14","entity_type":"gene"},{"created":"2021-08-05T18:23:08.551946+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.275","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAP3K14 were set to 25406581; 29230214; 11251123","entity_name":"MAP3K14","entity_type":"gene"},{"created":"2021-08-05T18:21:51.366625+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.274","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAP3K14 were changed from  to NIK deficiency; Poor T cell proliferation to antigen; Low B-cell numbers; Low NK number and function; recurrent bacterial/viral/ cryptosporidium infections; hypogammaglobulinaemia; decreased immunoglobulin levels","entity_name":"MAP3K14","entity_type":"gene"},{"created":"2021-08-05T18:20:27.403487+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.273","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAP3K14 were set to ","entity_name":"MAP3K14","entity_type":"gene"},{"created":"2021-08-05T18:19:52.820740+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.272","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MAP3K14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MAP3K14","entity_type":"gene"},{"created":"2021-08-05T18:18:26.467825+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8641","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRBA as ready","entity_name":"LRBA","entity_type":"gene"},{"created":"2021-08-05T18:18:26.457267+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8641","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrba has been classified as Green List (High Evidence).","entity_name":"LRBA","entity_type":"gene"},{"created":"2021-08-05T18:13:50.409125+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8641","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LRBA were changed from  to Immunodeficiency, common variable, 8, with autoimmunity MIM# 614700; Normal-decreased CD4 numbers; T cell dysregulation; Low-normal B cells; Reduced IgG and IgA; Recurrent infections; chronic diarrhoea; inflammatory bowel disease; hypogammaglobulinaemia; pneumonitis; autoimmune disorders; thrombocytopaenia","entity_name":"LRBA","entity_type":"gene"},{"created":"2021-08-05T18:13:27.185558+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8640","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LRBA were set to ","entity_name":"LRBA","entity_type":"gene"},{"created":"2021-08-05T18:12:57.918393+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8639","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LRBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRBA","entity_type":"gene"},{"created":"2021-08-05T18:12:31.849110+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8638","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LRBA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22608502, 22721650, 25468195, 26206937, 33155142; Phenotypes: Immunodeficiency, common variable, 8, with autoimmunity MIM# 614700, Normal-decreased CD4 numbers, T cell dysregulation, Low-normal B cells, Reduced IgG and IgA, Recurrent infections, chronic diarrhoea, inflammatory bowel disease, hypogammaglobulinaemia, pneumonitis, autoimmune disorders, thrombocytopaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRBA","entity_type":"gene"},{"created":"2021-08-05T18:11:12.771142+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.271","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRBA as ready","entity_name":"LRBA","entity_type":"gene"},{"created":"2021-08-05T18:11:12.753362+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.271","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrba has been classified as Green List (High Evidence).","entity_name":"LRBA","entity_type":"gene"},{"created":"2021-08-05T18:11:09.844017+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.271","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LRBA were changed from  to Immunodeficiency, common variable, 8, with autoimmunity MIM# 614700; Normal-decreased CD4 numbers; T cell dysregulation; Low-normal B cells; Reduced IgG and IgA; Recurrent infections; chronic diarrhoea; inflammatory bowel disease; hypogammaglobulinaemia; pneumonitis; autoimmune disorders; thrombocytopaenia","entity_name":"LRBA","entity_type":"gene"},{"created":"2021-08-05T18:10:34.076832+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LRBA were set to ","entity_name":"LRBA","entity_type":"gene"},{"created":"2021-08-05T18:10:02.861283+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.269","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LRBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRBA","entity_type":"gene"},{"created":"2021-08-05T16:15:45.945020+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8638","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: NFKBIA: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 28597146, 23864385, 23708964; Phenotypes: Ectodermal dysplasia and immunodeficiency 2 MIM# 612132, Ectodermal dysplasia, TCR/ BCR activation impaired, low memory and isotype switched B cells, decreased IgG and IgA, elevated IgM, poor specific antibody responses, diarrhoea, agammaglobulinaemia, ectodermal dysplasia, recurrent respiratory and gastrointestinal infections, colitis, variable defects of skin, hair and teeth; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NFKBIA","entity_type":"gene"},{"created":"2021-08-05T16:12:47.907035+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8638","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: NFKB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24140114, 24888602, 25524009, 31417880; Phenotypes: Immunodeficiency, common variable, 10 MIM# 615577, Low serum IgG, IgA, IgM, low B cell numbers, low switched memory B cells, Recurrent sinopulmonary infections, Alopecia, endocrinopathies, ACTH deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NFKB2","entity_type":"gene"},{"created":"2021-08-05T16:08:06.435040+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8638","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: NFKB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26279205, 32278790, 27022143, 7834752; Phenotypes: Immunodeficiency, common variable, 12 MIM# 616576, Normal-low IgG, IgA, IgM, low-normal B cells, low switched memory B cells, hypogammaglobulinaemia, recurrent respiratory and gastrointestinal infections, Chronic obstructive pulmonary disease COPD, EBV proliferation, autoimmunity, alopecia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NFKB1","entity_type":"gene"},{"created":"2021-08-05T15:47:44.116088+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.268","user_name":"Danielle Ariti","item_type":"entity","text":"changed review comment from: 12 heterozygous variants were identified in 15 unrelated individuals (de novo in 14 individuals and somatic mosaicism in 1 individual).\r\n\r\nFunctional studies & two mouse models; demonstrate reported NFKBIA\r\ngain-of-function variants resulting in impaired NFKB1 activity.\r\n\r\nThe majority of individuals displayed recurrent infections, chronic diarrhoea, agammaglobulinaemia, increased IgM, and defects in teeth (hair, nail, sweat glands).; to: 12 heterozygous variants were identified in 15 unrelated individuals (de novo in 14 individuals and somatic mosaicism in 1 individual).\r\n\r\nFunctional studies & two mouse models; demonstrate reported NFKBIA gain-of-function variants resulting in impaired NFKB1 activity.\r\n\r\nThe majority of individuals displayed recurrent infections, chronic diarrhoea, agammaglobulinaemia, increased IgM, and defects in teeth (hair, nail, sweat glands).","entity_name":"NFKBIA","entity_type":"gene"},{"created":"2021-08-05T15:46:44.963953+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.268","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: NFKBIA: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 28597146, 23864385, 23708964; Phenotypes: Ectodermal dysplasia and immunodeficiency 2 MIM# 612132, Ectodermal dysplasia, TCR/ BCR activation impaired, low memory and isotype switched B cells, decreased IgG and IgA, elevated IgM, poor specific antibody responses, diarrhoea, agammaglobulinaemia, ectodermal dysplasia, recurrent respiratory and gastrointestinal infections, colitis, variable defects of skin, hair and teeth; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NFKBIA","entity_type":"gene"},{"created":"2021-08-05T14:37:07.881440+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.268","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: NFKB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24140114, 24888602, 25524009, 31417880; Phenotypes: Immunodeficiency, common variable, 10 MIM#  615577, Low serum IgG, IgA, IgM, low B cell numbers, low switched memory B cells, Recurrent sinopulmonary infections, Alopecia, endocrinopathies, ACTH deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NFKB2","entity_type":"gene"},{"created":"2021-08-05T12:38:12.107265+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.268","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: NFKB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26279205, 32278790, 27022143, 7834752; Phenotypes: Immunodeficiency, common variable, 12 MIM# 616576, Normal-low IgG, IgA, IgM, low-normal B cells, low switched memory B cells, hypogammaglobulinaemia, recurrent respiratory and gastrointestinal infections, Chronic obstructive pulmonary disease COPD, EBV proliferation, autoimmunity, alopecia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NFKB1","entity_type":"gene"},{"created":"2021-08-05T11:57:43.038964+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.268","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: MCM4: Rating: AMBER; Mode of pathogenicity: None; Publications: 22354167, 22354170, 22499342; Phenotypes: Immunodeficiency 54 MIM# 609981, Decreased NK cell number and function, Viral infections (EBV, HSV, VZV), Short stature, B cell lymphoma, Adrenal failure, Failure to thrive, Microcephaly, Increased chromosomal breakage, Hyperpigmentation, Lymphadenopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MCM4","entity_type":"gene"},{"created":"2021-08-05T11:50:11.262655+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WNK1 were changed from  to Pseudohypoaldosteronism 2C (PHA2C), MIM#614492","entity_name":"WNK1","entity_type":"gene"},{"created":"2021-08-05T11:49:36.172296+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: WNK1 were set to ","entity_name":"WNK1","entity_type":"gene"},{"created":"2021-08-05T11:48:57.171679+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: WNK1 was changed from  to Other","entity_name":"WNK1","entity_type":"gene"},{"created":"2021-08-05T11:48:26.038817+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: WNK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"WNK1","entity_type":"gene"},{"created":"2021-08-05T11:02:23.644802+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.268","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: MAP3K14: Rating: AMBER; Mode of pathogenicity: None; Publications: 25406581, 29230214, 11251123; Phenotypes: NIK deficiency, Poor T cell proliferation to antigen, Low B-cell numbers, Low NK number and function, recurrent bacterial/viral/ cryptosporidium infections, hypogammaglobulinaemia, decreased immunoglobulin levels; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MAP3K14","entity_type":"gene"},{"created":"2021-08-05T10:10:28.112080+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.268","user_name":"Danielle Ariti","item_type":"entity","text":"changed review comment from: Over 10 unrelated individuals with LRBA variants displaying immunodeficiency phenotype; one mouse model.\r\n\r\nReported homozygous truncating variants (missense/ nonsense).\r\n\r\nMost reported individuals displayed reduced IgG and IgA, autoimmune disorders, hypogammaglobulinemia and recurrent infections.; to: Over 10 unrelated individuals with LRBA variants displaying immunodeficiency phenotype; one mouse model.\r\n\r\nReported homozygous truncating variants (missense/ nonsense).\r\n\r\nMost reported individuals displayed reduced IgG and IgA, autoimmune disorders, hypogammaglobulinaemia and recurrent infections.","entity_name":"LRBA","entity_type":"gene"},{"created":"2021-08-05T10:10:19.848523+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.268","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: LRBA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22608502, 22721650, 25468195, 26206937, 33155142; Phenotypes: Immunodeficiency, common variable, 8, with autoimmunity MIM# 614700, Normal-decreased CD4 numbers, T cell dysregulation, Low-normal B cells, Reduced IgG and IgA, Recurrent infections, chronic diarrhoea, inflammatory bowel disease, hypogammaglobulinaemia, pneumonitis, autoimmune disorders, thrombocytopaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRBA","entity_type":"gene"},{"created":"2021-08-05T07:24:55.071025+10:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"1.0","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: WNK1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 11498583, 11498583; Phenotypes: Pseudohypoaldosteronism 2C (PHA2C); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"WNK1","entity_type":"gene"},{"created":"2021-08-05T07:12:24.620306+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8638","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AQP2 as ready","entity_name":"AQP2","entity_type":"gene"},{"created":"2021-08-05T07:12:24.609291+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8638","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aqp2 has been classified as Green List (High Evidence).","entity_name":"AQP2","entity_type":"gene"},{"created":"2021-08-05T07:12:16.282076+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8638","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AQP2 were changed from  to Diabetes insipidus, nephrogenic, MIM#125800","entity_name":"AQP2","entity_type":"gene"},{"created":"2021-08-05T07:11:55.746749+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8637","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AQP2 were set to ","entity_name":"AQP2","entity_type":"gene"},{"created":"2021-08-05T07:11:32.819466+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8636","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AQP2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"AQP2","entity_type":"gene"},{"created":"2021-08-05T07:11:15.970718+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8635","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AQP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7537761, 11536078; Phenotypes: Diabetes insipidus, nephrogenic, MIM#125800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"AQP2","entity_type":"gene"},{"created":"2021-08-05T06:34:16.337020+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4026","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RNF2 were changed from epilepsy; intellectual disability; intrauterine growth retardation to Lou-Schoch-Yamamoto syndrome , MIM#619460; epilepsy; intellectual disability; intrauterine growth retardation","entity_name":"RNF2","entity_type":"gene"},{"created":"2021-08-05T06:33:46.488991+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4025","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RNF2: Changed phenotypes: Lou-Schoch-Yamamoto syndrome , MIM#619460, epilepsy, intellectual disability, intrauterine growth retardation","entity_name":"RNF2","entity_type":"gene"},{"created":"2021-08-05T06:33:28.917734+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1156","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RNF2 were changed from epilepsy; intellectual disability; intrauterine growth retardation to Lou-Schoch-Yamamoto syndrome , MIM#619460; epilepsy; intellectual disability; intrauterine growth retardation","entity_name":"RNF2","entity_type":"gene"},{"created":"2021-08-05T06:32:55.569725+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1155","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RNF2: Changed phenotypes: Lou-Schoch-Yamamoto syndrome , MIM#619460, epilepsy, intellectual disability, intrauterine growth retardation","entity_name":"RNF2","entity_type":"gene"},{"created":"2021-08-05T06:32:31.134409+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8635","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RNF2 were changed from epilepsy; intellectual disability; intrauterine growth retardation to Lou-Schoch-Yamamoto syndrome , MIM#619460; epilepsy; intellectual disability; intrauterine growth retardation","entity_name":"RNF2","entity_type":"gene"},{"created":"2021-08-05T06:32:03.635495+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8634","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RNF2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Lou-Schoch-Yamamoto syndrome , MIM#619460; Mode of inheritance: None","entity_name":"RNF2","entity_type":"gene"},{"created":"2021-08-05T06:25:59.578428+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4025","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: USP7 were changed from Hao-Fountain syndrome, MIM# 616863; ID; Autism to Hao-Fountain syndrome, MIM# 616863; MONDO:0014805; Intellectual disability; Autism","entity_name":"USP7","entity_type":"gene"},{"created":"2021-08-05T06:25:22.258297+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":"edited their review of gene: USP7: Changed phenotypes: Hao-Fountain syndrome, MIM# 616863, MONDO:0014805, Intellectual disability, Autism","entity_name":"USP7","entity_type":"gene"},{"created":"2021-08-05T06:24:57.255000+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8634","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: USP7 were changed from Hao-Fountain syndrome, MIM# 616863; Intellectual disability; Autism to Hao-Fountain syndrome, MIM# 616863; MONDO:0014805; Intellectual disability; Autism","entity_name":"USP7","entity_type":"gene"},{"created":"2021-08-05T06:24:34.531173+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8633","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: USP7: Changed phenotypes: Hao-Fountain syndrome, MIM# 616863, MONDO:0014805, Intellectual disability, Autism","entity_name":"USP7","entity_type":"gene"},{"created":"2021-08-05T06:24:11.107252+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: USP7 were changed from Hao-Fountain syndrome, MIM# 616863; Intellectual disability; Autism to Hao-Fountain syndrome, MIM# 616863; MONDO:0014805; Intellectual disability; Autism","entity_name":"USP7","entity_type":"gene"},{"created":"2021-08-05T06:23:33.040775+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: USP7: Changed phenotypes: Hao-Fountain syndrome, MIM# 616863, MONDO:0014805, Intellectual disability, Autism","entity_name":"USP7","entity_type":"gene"},{"created":"2021-08-04T17:43:35.316594+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GIMAP5 as ready","entity_name":"GIMAP5","entity_type":"gene"},{"created":"2021-08-04T17:43:35.304172+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gimap5 has been classified as Green List (High Evidence).","entity_name":"GIMAP5","entity_type":"gene"},{"created":"2021-08-04T17:43:31.743231+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GIMAP5 as Green List (high evidence)","entity_name":"GIMAP5","entity_type":"gene"},{"created":"2021-08-04T17:43:31.732155+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gimap5 has been classified as Green List (High Evidence).","entity_name":"GIMAP5","entity_type":"gene"},{"created":"2021-08-04T17:43:05.100474+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GIMAP5 was added\ngene: GIMAP5 was added to Bone Marrow Failure. Sources: Expert list\nMode of inheritance for gene: GIMAP5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GIMAP5 were set to 33956074\nPhenotypes for gene: GIMAP5 were set to Portal hypertension, noncirrhotic, 2, MIM# 619463\nReview for gene: GIMAP5 was set to GREEN\nAdded comment: 8 individuals from 4 unrelated families reported with onset of disease in the first decade of life. Clinical features included jaundice, hyperbilirubinaemia, pancytopaenia, including neutropaenia, lymphopaenia, and thrombocytopaenia, hepatosplenomegaly, and oesophageal varices. Some individuals had recurrent infections or features suggestive of an immunodeficiency. Liver biopsy was notable for the absence of cirrhosis and the presence of nodular regeneration. \nSources: Expert list","entity_name":"GIMAP5","entity_type":"gene"},{"created":"2021-08-04T17:41:35.490006+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8633","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GIMAP5 as ready","entity_name":"GIMAP5","entity_type":"gene"},{"created":"2021-08-04T17:41:35.481117+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8633","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gimap5 has been classified as Green List (High Evidence).","entity_name":"GIMAP5","entity_type":"gene"},{"created":"2021-08-04T17:41:25.156650+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8633","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GIMAP5 as Green List (high evidence)","entity_name":"GIMAP5","entity_type":"gene"},{"created":"2021-08-04T17:41:25.145513+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8633","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gimap5 has been classified as Green List (High Evidence).","entity_name":"GIMAP5","entity_type":"gene"},{"created":"2021-08-04T17:41:10.310006+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8632","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GIMAP5 was added\ngene: GIMAP5 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: GIMAP5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GIMAP5 were set to 33956074\nPhenotypes for gene: GIMAP5 were set to Portal hypertension, noncirrhotic, 2, MIM#\t619463\nReview for gene: GIMAP5 was set to GREEN\nAdded comment: 8 individuals from 4 unrelated families reported with onset of disease in the first decade of life. Clinical features included jaundice, hyperbilirubinaemia, pancytopaenia, including neutropaenia, lymphopaenia, and thrombocytopaenia, hepatosplenomegaly, and oesophageal varices. Some individuals had recurrent infections or features suggestive of an immunodeficiency. Liver biopsy was notable for the absence of cirrhosis and the presence of nodular regeneration. \nSources: Expert list","entity_name":"GIMAP5","entity_type":"gene"},{"created":"2021-08-04T17:35:42.240641+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8631","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERBB2 were changed from  to Visceral neuropathy, familial, 2, autosomal recessive, MIM#\t619465","entity_name":"ERBB2","entity_type":"gene"},{"created":"2021-08-04T08:27:59.653660+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"1.15","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":"2021-08-04T08:27:42.788793+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"1.14","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":"2021-08-04T08:27:18.595574+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8630","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERBB3 were changed from Lethal congenital contractural syndrome 2, MIM# 607598; Hirschsprung disease; Arthrogryposis; Complex neurocristinopathy to Lethal congenital contractural syndrome 2, MIM# 607598; Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180; Hirschsprung disease; Arthrogryposis; Complex neurocristinopathy","entity_name":"ERBB3","entity_type":"gene"}]}