{"count":220917,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1226","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1224","results":[{"created":"2021-08-28T15:57:57.114696+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.75","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: SCA36 as ready","entity_name":"SCA36","entity_type":"str"},{"created":"2021-08-28T15:57:57.105743+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.75","user_name":"Bryony Thompson","item_type":"entity","text":"Str: sca36 has been classified as Green List (High Evidence).","entity_name":"SCA36","entity_type":"str"},{"created":"2021-08-28T15:57:41.140825+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.75","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: SCA36 as Green List (high evidence)","entity_name":"SCA36","entity_type":"str"},{"created":"2021-08-28T15:57:41.131916+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.75","user_name":"Bryony Thompson","item_type":"entity","text":"Str: sca36 has been classified as Green List (High Evidence).","entity_name":"SCA36","entity_type":"str"},{"created":"2021-08-28T15:57:29.245010+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.74","user_name":"Bryony Thompson","item_type":"entity","text":"STR: SCA36 was added\nSTR: SCA36 was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: SCA36 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA36 were set to 21683323\nPhenotypes for STR: SCA36 were set to Spinocerebellar ataxia 36 MIM#614153\nReview for STR: SCA36 was set to GREEN\nSTR: SCA36 was marked as clinically relevant\nAdded comment: NM_006392​.3:c.3+71GGCCTG[X]\r\nToxic RNA effect is suggested mechanism of disease\r\nNormal: 3-14 repeats\r\nUncertain significance: 15-650 repeats\r\nPathogenic: ≥650 repeats \nSources: Expert list","entity_name":"SCA36","entity_type":"str"},{"created":"2021-08-28T07:52:16.397816+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PSAP were changed from Parkinson Disease, AD to Parkinson disease 24, autosomal dominant, susceptibility to, MIM# 619491","entity_name":"PSAP","entity_type":"gene"},{"created":"2021-08-28T07:51:28.654808+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Parkinson disease 24, autosomal dominant, susceptibility to, MIM# 619491; Mode of inheritance: None","entity_name":"PSAP","entity_type":"gene"},{"created":"2021-08-27T15:30:39.587931+10:00","panel_name":"Osteoporosis","panel_id":3696,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"panel","text":"Added Panel Osteoporosis\nSet panel types to: Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2021-08-27T11:09:19.783513+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8969","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYO1H as ready","entity_name":"MYO1H","entity_type":"gene"},{"created":"2021-08-27T11:09:19.772677+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8969","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myo1h has been classified as Red List (Low Evidence).","entity_name":"MYO1H","entity_type":"gene"},{"created":"2021-08-27T11:09:09.764630+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8969","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYO1H was added\ngene: MYO1H was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MYO1H was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYO1H were set to 28779001\nPhenotypes for gene: MYO1H were set to Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction, MIM#619482\nReview for gene: MYO1H was set to RED\nAdded comment: Single family reported with three affected children, homozygous LoF variant. \nSources: Literature","entity_name":"MYO1H","entity_type":"gene"},{"created":"2021-08-27T11:07:24.220779+10:00","panel_name":"Central Hypoventilation","panel_id":71,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYO1H as ready","entity_name":"MYO1H","entity_type":"gene"},{"created":"2021-08-27T11:07:24.210401+10:00","panel_name":"Central Hypoventilation","panel_id":71,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myo1h has been classified as Red List (Low Evidence).","entity_name":"MYO1H","entity_type":"gene"},{"created":"2021-08-27T11:07:01.873834+10:00","panel_name":"Central Hypoventilation","panel_id":71,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYO1H was added\ngene: MYO1H was added to Central Hypoventilation. Sources: Literature\nMode of inheritance for gene: MYO1H was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYO1H were set to 28779001\nPhenotypes for gene: MYO1H were set to Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction, MIM#619482\nReview for gene: MYO1H was set to RED\nAdded comment: Single family reported with three affected children, homozygous LoF variant. \nSources: Literature","entity_name":"MYO1H","entity_type":"gene"},{"created":"2021-08-26T20:01:08.074206+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.73","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: SCA31 as ready","entity_name":"SCA31","entity_type":"str"},{"created":"2021-08-26T20:01:08.065599+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.73","user_name":"Bryony Thompson","item_type":"entity","text":"Str: sca31 has been classified as Green List (High Evidence).","entity_name":"SCA31","entity_type":"str"},{"created":"2021-08-26T20:01:04.758300+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.73","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: SCA31 as Green List (high evidence)","entity_name":"SCA31","entity_type":"str"},{"created":"2021-08-26T20:01:04.748473+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.73","user_name":"Bryony Thompson","item_type":"entity","text":"Str: sca31 has been classified as Green List (High Evidence).","entity_name":"SCA31","entity_type":"str"},{"created":"2021-08-26T20:00:56.097158+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.72","user_name":"Bryony Thompson","item_type":"entity","text":"STR: SCA31 was added\nSTR: SCA31 was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: SCA31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA31 were set to 19878914; 31755042\nPhenotypes for STR: SCA31 were set to Spinocerebellar ataxia 31 MIM#117210\nReview for STR: SCA31 was set to GREEN\nSTR: SCA31 was marked as clinically relevant\nAdded comment: Complex repeat insertion (TGGAA)n, (TAGAA)n, (TAAAA)n, (TAAAATAGAA)n, TGGAA is present only in affected cases. Sequencing showed that the insertion consisted of a preceding TCAC sequence, and 3 pentanucleotide repeat components (TGGAA)n, (TAGAA)n, and (TAAAA)n in all patients tested.\r\n2.5-3.8 KB insertion is associated with disease and RNA toxicity expected to be mechanism of disease\r\nNormal and pathogenic cut-offs are based on animal model experiments (PMID: 31755042) \nSources: Expert list","entity_name":"SCA31","entity_type":"str"},{"created":"2021-08-26T19:55:57.795344+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.71","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: FXTAS as ready","entity_name":"FXTAS","entity_type":"str"},{"created":"2021-08-26T19:55:57.785390+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.71","user_name":"Bryony Thompson","item_type":"entity","text":"Str: fxtas has been classified as Green List (High Evidence).","entity_name":"FXTAS","entity_type":"str"},{"created":"2021-08-26T19:55:53.950947+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.71","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: FXTAS as Green List (high evidence)","entity_name":"FXTAS","entity_type":"str"},{"created":"2021-08-26T19:55:53.937519+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.71","user_name":"Bryony Thompson","item_type":"entity","text":"Str: fxtas has been classified as Green List (High Evidence).","entity_name":"FXTAS","entity_type":"str"},{"created":"2021-08-26T19:55:41.553901+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.70","user_name":"Bryony Thompson","item_type":"entity","text":"STR: FXTAS was added\nSTR: FXTAS was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: FXTAS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for STR: FXTAS were set to 23765048; 25227148; 11445641\nPhenotypes for STR: FXTAS were set to Fragile X tremor/ataxia syndrome MIM#300623\nReview for STR: FXTAS was set to GREEN\nSTR: FXTAS was marked as clinically relevant\nAdded comment: HGVS nomenclature - NM_002024.5:c.-129_-127CGG[X]\r\nRNA-mediated toxicity may result in the FXTAS phenotype, whereas loss of function through methylation silencing of FMR1 is associated with the FXS phenotype.\r\nIntermediate (grey zone, inconclusive, borderline): ~45 to ~54 repeats\r\nPremutation - risk of FXTAS: ~55 to ~200 repeats\r\nFull mutation - fragile X syndrome (FXS): >200 repeats \nSources: Expert list","entity_name":"FXTAS","entity_type":"str"},{"created":"2021-08-26T19:50:13.176146+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.69","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: DM2 as ready","entity_name":"DM2","entity_type":"str"},{"created":"2021-08-26T19:50:13.167739+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.69","user_name":"Bryony Thompson","item_type":"entity","text":"Str: dm2 has been classified as Green List (High Evidence).","entity_name":"DM2","entity_type":"str"},{"created":"2021-08-26T19:50:09.377184+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.69","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: DM2 as Green List (high evidence)","entity_name":"DM2","entity_type":"str"},{"created":"2021-08-26T19:50:09.367105+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.69","user_name":"Bryony Thompson","item_type":"entity","text":"Str: dm2 has been classified as Green List (High Evidence).","entity_name":"DM2","entity_type":"str"},{"created":"2021-08-26T19:50:00.911035+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.68","user_name":"Bryony Thompson","item_type":"entity","text":"STR: DM2 was added\nSTR: DM2 was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: DM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: DM2 were set to 20301639; 11486088\nPhenotypes for STR: DM2 were set to Myotonic dystrophy 2 MIM#602668\nReview for STR: DM2 was set to GREEN\nSTR: DM2 was marked as clinically relevant\nAdded comment: HGVS nomenclature: NM_003418.4:c.-14-833_-14-830[X]\r\nToxic gain of function RNA expected mechanism of disease\r\nNormal: ≤30 uninterrupted CCTG repeats, 11-26 CCTG repeats with any GCTC or TCTG interruptions\r\nUnknown significance (normal vs. mutable): 27-29 CCTG repeats\r\nMutable normal (premutation) alleles. ~30-~54 CCTG repeats\r\nUnknown significance (premutation vs pathogenic): ~55-74 CCTG repeats\r\nPathogenic: ~75-11,000 CCTG repeats \nSources: Expert list","entity_name":"DM2","entity_type":"str"},{"created":"2021-08-26T19:44:57.671320+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.67","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: SCA10 as ready","entity_name":"SCA10","entity_type":"str"},{"created":"2021-08-26T19:44:57.658862+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.67","user_name":"Bryony Thompson","item_type":"entity","text":"Str: sca10 has been classified as Green List (High Evidence).","entity_name":"SCA10","entity_type":"str"},{"created":"2021-08-26T19:44:53.769068+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.67","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: SCA10 as Green List (high evidence)","entity_name":"SCA10","entity_type":"str"},{"created":"2021-08-26T19:44:53.759509+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.67","user_name":"Bryony Thompson","item_type":"entity","text":"Str: sca10 has been classified as Green List (High Evidence).","entity_name":"SCA10","entity_type":"str"},{"created":"2021-08-26T19:44:09.797053+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.66","user_name":"Bryony Thompson","item_type":"entity","text":"STR: SCA10 was added\nSTR: SCA10 was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: SCA10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA10 were set to 20301354; 11017075\nPhenotypes for STR: SCA10 were set to Spinocerebellar ataxia 10 MIM#603516\nReview for STR: SCA10 was set to GREEN\nSTR: SCA10 was marked as clinically relevant\nAdded comment: NM_013236​.2:c.1430+54822ATTCT[X]\r\nToxic RNA gain-of-function mechanism of disease\r\nNormal alleles: 10-32 ATTCT repeats\r\nAlleles of questionable significance: 33-280 ATTCT repeats\r\nReduced-penetrance alleles: 33-850 repeats\r\nFull-penetrance alleles: 800-4,500 ATTCT repeats \nSources: Expert list","entity_name":"SCA10","entity_type":"str"},{"created":"2021-08-26T17:42:20.514173+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FBXW7 as ready","entity_name":"FBXW7","entity_type":"gene"},{"created":"2021-08-26T17:42:20.503206+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbxw7 has been classified as Green List (High Evidence).","entity_name":"FBXW7","entity_type":"gene"},{"created":"2021-08-26T17:42:18.000555+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FBXW7 were changed from  to Predisposition to cancer","entity_name":"FBXW7","entity_type":"gene"},{"created":"2021-08-26T17:41:06.077856+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FBXW7 as Green List (high evidence)","entity_name":"FBXW7","entity_type":"gene"},{"created":"2021-08-26T17:41:06.069075+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbxw7 has been classified as Green List (High Evidence).","entity_name":"FBXW7","entity_type":"gene"},{"created":"2021-08-26T17:30:05.610754+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BLM as ready","entity_name":"BLM","entity_type":"gene"},{"created":"2021-08-26T17:30:05.595329+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: blm has been classified as Green List (High Evidence).","entity_name":"BLM","entity_type":"gene"},{"created":"2021-08-26T17:29:57.952248+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BLM were changed from  to Bloom Syndrome MIM# 210900; Short stature, dysmorphic facies; sun-sensitive; immunoglobulin deficiency (IgA, IgG, IgM); erythema; marrow failure; leukaemia; lymphoma; chromosomal instability; predisposition to malignancies","entity_name":"BLM","entity_type":"gene"},{"created":"2021-08-26T17:29:34.550041+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BLM were set to ","entity_name":"BLM","entity_type":"gene"},{"created":"2021-08-26T17:27:58.917839+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BLM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"BLM","entity_type":"gene"},{"created":"2021-08-26T17:27:26.989989+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: None; Publications: 17407155, 9285778, 7585968, 8079989, 12242442, 11101838; Phenotypes: Bloom Syndrome MIM# 210900, Short stature, dysmorphic facies, sun-sensitive, immunoglobulin deficiency (IgA, IgG, IgM), erythema, marrow failure, leukaemia, lymphoma, chromosomal instability, predisposition to malignancies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BLM","entity_type":"gene"},{"created":"2021-08-26T17:25:45.172306+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8968","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BLM as ready","entity_name":"BLM","entity_type":"gene"},{"created":"2021-08-26T17:25:45.162857+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8968","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: blm has been classified as Green List (High Evidence).","entity_name":"BLM","entity_type":"gene"},{"created":"2021-08-26T17:25:24.216409+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8968","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BLM were changed from  to Bloom Syndrome MIM# 210900; Short stature, dysmorphic facies; sun-sensitive; immunoglobulin deficiency (IgA, IgG, IgM); erythema; marrow failure; leukaemia; lymphoma; chromosomal instability; predisposition to malignancies","entity_name":"BLM","entity_type":"gene"},{"created":"2021-08-26T17:25:03.966053+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8967","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BLM were set to ","entity_name":"BLM","entity_type":"gene"},{"created":"2021-08-26T17:24:41.265427+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8966","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BLM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"BLM","entity_type":"gene"},{"created":"2021-08-26T17:21:42.431798+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8965","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRKDC as ready","entity_name":"PRKDC","entity_type":"gene"},{"created":"2021-08-26T17:21:42.421875+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8965","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkdc has been classified as Green List (High Evidence).","entity_name":"PRKDC","entity_type":"gene"},{"created":"2021-08-26T17:21:35.369137+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8965","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRKDC were changed from  to Immunodeficiency 26, with or without neurologic abnormalities MIM# 615966; Absent T and B cells; normal NK cells; SCID; recurrent respiratory infections; microcephaly; seizures; developmental delay","entity_name":"PRKDC","entity_type":"gene"},{"created":"2021-08-26T17:21:17.192377+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8964","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRKDC were set to ","entity_name":"PRKDC","entity_type":"gene"},{"created":"2021-08-26T17:20:59.151936+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8963","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PRKDC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRKDC","entity_type":"gene"},{"created":"2021-08-26T17:20:40.619801+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8962","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRKDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 19075392, 23722905; Phenotypes: Immunodeficiency 26, with or without neurologic abnormalities MIM# 615966, Absent T and B cells, normal NK cells, SCID, recurrent respiratory infections, microcephaly, seizures, developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRKDC","entity_type":"gene"},{"created":"2021-08-26T17:07:03.562731+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2021-08-26T17:05:45.761958+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.394","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WAS as ready","entity_name":"WAS","entity_type":"gene"},{"created":"2021-08-26T17:05:45.752932+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.394","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: was has been classified as Green List (High Evidence).","entity_name":"WAS","entity_type":"gene"},{"created":"2021-08-26T17:05:38.925082+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.394","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WAS were changed from  to Neutropaenia, severe congenital, X-linked MIM# 300299; Wiskott-Aldrich syndrome MIM# 301000; Thrombocytopaenia, X-linked MIM# 313900","entity_name":"WAS","entity_type":"gene"},{"created":"2021-08-26T17:05:01.551364+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.393","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: WAS were set to ","entity_name":"WAS","entity_type":"gene"},{"created":"2021-08-26T17:04:36.291105+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.392","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: WAS was changed from  to Other","entity_name":"WAS","entity_type":"gene"},{"created":"2021-08-26T17:02:45.483434+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.391","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: WAS was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"WAS","entity_type":"gene"},{"created":"2021-08-26T17:00:59.483330+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8962","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBX1 as ready","entity_name":"TBX1","entity_type":"gene"},{"created":"2021-08-26T17:00:59.472794+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8962","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbx1 has been classified as Green List (High Evidence).","entity_name":"TBX1","entity_type":"gene"},{"created":"2021-08-26T17:00:50.650367+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8962","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TBX1 were changed from  to DiGeorge syndrome MIM# 188400; Velocardiofacial syndrome MIM# 192430; Decreased T cells; Hypoparathyroidism; Conotruncal cardiac malformation; velopalatal insufficiency; abnormal facies (cleft palate, prominent tubular nose etc); intellectual disability; Immunodeficiency; thymic hypoplasia or aplasia with resultant T‐cell dysfunction; renal anomalies; autoimmunity","entity_name":"TBX1","entity_type":"gene"},{"created":"2021-08-26T17:00:12.532702+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8961","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TBX1 were set to ","entity_name":"TBX1","entity_type":"gene"},{"created":"2021-08-26T16:59:51.814064+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8960","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TBX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TBX1","entity_type":"gene"},{"created":"2021-08-26T16:59:34.644749+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8959","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: TBX1.","entity_name":"TBX1","entity_type":"gene"},{"created":"2021-08-26T16:59:20.072728+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8959","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301696, 31830774, 16684884; Phenotypes: DiGeorge syndrome MIM# 188400, Velocardiofacial syndrome MIM# 192430, Decreased T cells, Hypoparathyroidism, Conotruncal cardiac malformation, velopalatal insufficiency, abnormal facies (cleft palate, prominent tubular nose etc), intellectual disability, Immunodeficiency, thymic hypoplasia or aplasia with resultant T‐cell dysfunction, renal anomalies, autoimmunity; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TBX1","entity_type":"gene"},{"created":"2021-08-26T16:57:58.804390+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.390","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: TBX1.","entity_name":"TBX1","entity_type":"gene"},{"created":"2021-08-26T16:56:59.078537+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.390","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBX1 as ready","entity_name":"TBX1","entity_type":"gene"},{"created":"2021-08-26T16:56:59.067894+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.390","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbx1 has been classified as Green List (High Evidence).","entity_name":"TBX1","entity_type":"gene"},{"created":"2021-08-26T16:56:01.360873+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.390","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TBX1 were changed from  to DiGeorge syndrome MIM# 188400; Velocardiofacial syndrome MIM# 192430; Decreased T cells; Hypoparathyroidism; Conotruncal cardiac malformation; velopalatal insufficiency; abnormal facies (cleft palate, prominent tubular nose etc); intellectual disability; Immunodeficiency; thymic hypoplasia or aplasia with resultant T‐cell dysfunction; renal anomalies; autoimmunity","entity_name":"TBX1","entity_type":"gene"},{"created":"2021-08-26T16:54:54.754298+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.389","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TBX1 were set to ","entity_name":"TBX1","entity_type":"gene"},{"created":"2021-08-26T16:54:04.186391+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.388","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TBX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TBX1","entity_type":"gene"},{"created":"2021-08-26T16:52:06.964880+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8959","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RTEL1 as ready","entity_name":"RTEL1","entity_type":"gene"},{"created":"2021-08-26T16:52:06.953341+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8959","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rtel1 has been classified as Green List (High Evidence).","entity_name":"RTEL1","entity_type":"gene"},{"created":"2021-08-26T16:51:51.837147+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8959","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RTEL1 were changed from  to Dyskeratosis congenita, autosomal dominant 4 MIM# 615190; Dyskeratosis congenita, autosomal recessive 5 MIM# 615190; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 MIM# 616373","entity_name":"RTEL1","entity_type":"gene"},{"created":"2021-08-26T16:50:28.137680+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8958","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RTEL1 were set to ","entity_name":"RTEL1","entity_type":"gene"},{"created":"2021-08-26T16:50:09.307592+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8957","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RTEL1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"RTEL1","entity_type":"gene"},{"created":"2021-08-26T16:48:48.059256+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8956","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301779, 23329068, 15210109, 23453664, 19461895, 25848748, 25607374; Phenotypes: Dyskeratosis congenita, autosomal dominant 4 MIM# 615190, Dyskeratosis congenita, autosomal recessive 5 MIM# 615190, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 MIM# 616373; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"RTEL1","entity_type":"gene"},{"created":"2021-08-26T16:47:30.528433+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.387","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RTEL1 as ready","entity_name":"RTEL1","entity_type":"gene"},{"created":"2021-08-26T16:47:30.518393+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.387","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rtel1 has been classified as Green List (High Evidence).","entity_name":"RTEL1","entity_type":"gene"},{"created":"2021-08-26T16:47:27.760599+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.387","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RTEL1 were changed from  to Dyskeratosis congenita, autosomal dominant 4 MIM# 615190; Dyskeratosis congenita, autosomal recessive 5 MIM# 615190; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 MIM# 616373","entity_name":"RTEL1","entity_type":"gene"},{"created":"2021-08-26T16:47:00.435789+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.386","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RTEL1 were set to ","entity_name":"RTEL1","entity_type":"gene"},{"created":"2021-08-26T16:46:27.829071+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.385","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RTEL1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"RTEL1","entity_type":"gene"},{"created":"2021-08-26T16:43:12.083760+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8956","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Over 60 pathogenic RMRP variants have been reported resulting in CHH phenotypes; multiple mouse models \r\n\r\nHomozygous and Compound heterozygous (insertions, duplications and missense) variants have been reported resulting in loss of function. \r\n*Founder variant g.70A>G (Amish and Finnish populations)\r\n\r\nCHH individuals present with variable features that may include: shortened limbs, short stature, metaphysical dysplasia, fine, sparse and/or light-coloured hair, hematologic abnormalities and a spectrum of combined immunodeficiency.; to: Over 60 pathogenic RMRP variants have been reported resulting in CHH phenotypes; multiple mouse models \r\n\r\nHomozygous and Compound heterozygous (insertions, duplications and missense) variants have been reported resulting in loss of function. \r\n*Founder variant g.70A>G (Amish and Finnish populations)\r\n\r\nCHH individuals present with variable features that may include: shortened limbs, short stature, metaphysical dysplasia, fine, sparse and/or light-coloured hair, hematologic abnormalities and a spectrum of combined immunodeficiency.\r\n\r\nAnauxetic dysplasia 1, MIM# 607095 is a more severe phenotype, whereas Metaphyseal dysplasia without hypotrichosis, MIM# 250460 is milder.\r\n","entity_name":"RMRP","entity_type":"gene"},{"created":"2021-08-26T16:42:35.412365+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8956","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RMRP: Changed publications: 16244706, 21396580, 22420014, 11940090, 16252239","entity_name":"RMRP","entity_type":"gene"},{"created":"2021-08-26T16:40:46.164821+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8956","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RMRP: Changed phenotypes: Cartilage hair hypoplasia (CHH) MIM#250250, Anauxetic dysplasia 1, MIM# 607095, Metaphyseal dysplasia without hypotrichosis, MIM# 250460","entity_name":"RMRP","entity_type":"gene"},{"created":"2021-08-26T16:39:01.785455+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8956","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RMRP as ready","entity_name":"RMRP","entity_type":"gene"},{"created":"2021-08-26T16:39:01.774721+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8956","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rmrp has been classified as Green List (High Evidence).","entity_name":"RMRP","entity_type":"gene"},{"created":"2021-08-26T16:38:54.600511+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8956","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RMRP were changed from  to Cartilage-hair hypoplasia MIM#250250","entity_name":"RMRP","entity_type":"gene"},{"created":"2021-08-26T16:38:35.640218+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8955","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RMRP were set to ","entity_name":"RMRP","entity_type":"gene"},{"created":"2021-08-26T16:37:41.537434+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8954","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RMRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RMRP","entity_type":"gene"},{"created":"2021-08-26T16:37:21.678905+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8953","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RMRP: Rating: GREEN; Mode of pathogenicity: None; Publications: 16244706, 21396580, 22420014; Phenotypes: Cartilage hair hypoplasia (CHH) MIM#250250, shortened limbs, short stature, metaphysical dysplasia, fine, sparse and/or light-coloured hair, hematologic abnormalities, CID, impaired lymphocyte proliferation, low Ig levels, antibodies variably decreased, bone marrow failure, autoimmunity, susceptibility to lymphoma and other cancers, impaired spermatogenesis, neuronal dysplasia of the intestine; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RMRP","entity_type":"gene"},{"created":"2021-08-26T16:36:12.679149+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.384","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RMRP as ready","entity_name":"RMRP","entity_type":"gene"},{"created":"2021-08-26T16:36:12.668928+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.384","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rmrp has been classified as Green List (High Evidence).","entity_name":"RMRP","entity_type":"gene"},{"created":"2021-08-26T16:36:09.751638+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.384","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RMRP were changed from  to Cartilage hair hypoplasia (CHH) MIM#250250; shortened limbs; short stature; metaphysical dysplasia; fine, sparse and/or light-coloured hair; hematologic abnormalities; CID; impaired lymphocyte proliferation; low Ig levels; antibodies variably decreased; bone marrow failure; autoimmunity; susceptibility to lymphoma and other cancers; impaired spermatogenesis; neuronal dysplasia of the intestine","entity_name":"RMRP","entity_type":"gene"},{"created":"2021-08-26T16:34:58.437420+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.383","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RMRP were set to ","entity_name":"RMRP","entity_type":"gene"}]}