{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1663","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1661","results":[{"created":"2020-08-23T12:12:06.630409+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.462","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ABAT were set to ","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:10:57.027190+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.461","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ABAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:10:29.952701+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.460","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ABAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 25738457, 27903293; Phenotypes: mtDNA depletion syndrome (MDS); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:01:37.492989+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABAT as ready","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:01:37.485383+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abat has been classified as Green List (High Evidence).","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:01:34.742012+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABAT were changed from  to GABA-transaminase deficiency, MIM# 613163","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:01:07.855253+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ABAT were set to ","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:00:45.304315+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ABAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:00:16.383360+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ABAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 28411234, 27596361, 20052547, 10407778, 6148708; Phenotypes: GABA-transaminase deficiency, MIM# 613163; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T11:21:04.371581+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.778","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LMBRD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Global developmental delay, Intellectual disability, Microcephaly, Seizures, Abnormality of nervous system morphology, Abnormality of the eye; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LMBRD2","entity_type":"gene"},{"created":"2020-08-23T11:20:27.402890+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.778","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LMBRD2 as ready","entity_name":"LMBRD2","entity_type":"gene"},{"created":"2020-08-23T11:20:27.393462+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.778","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lmbrd2 has been classified as Green List (High Evidence).","entity_name":"LMBRD2","entity_type":"gene"},{"created":"2020-08-23T11:20:17.997534+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3873","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LMBRD2 as ready","entity_name":"LMBRD2","entity_type":"gene"},{"created":"2020-08-23T11:20:17.987569+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3873","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lmbrd2 has been classified as Green List (High Evidence).","entity_name":"LMBRD2","entity_type":"gene"},{"created":"2020-08-23T11:20:08.750435+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3873","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LMBRD2 as Green List (high evidence)","entity_name":"LMBRD2","entity_type":"gene"},{"created":"2020-08-23T11:20:08.742142+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3873","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lmbrd2 has been classified as Green List (High Evidence).","entity_name":"LMBRD2","entity_type":"gene"},{"created":"2020-08-23T11:19:52.862030+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3872","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LMBRD2 was added\ngene: LMBRD2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: LMBRD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LMBRD2 were set to 32820033; https://doi.org/10.1101/797787\nPhenotypes for gene: LMBRD2 were set to Global developmental delay; Intellectual disability; Microcephaly; Seizures; Abnormality of nervous system morphology; Abnormality of the eye\nMode of pathogenicity for gene: LMBRD2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: LMBRD2 was set to GREEN\nAdded comment: 13 individuals with dn missense SNVs overall, overlapping features for 10 with available phenotype / a recurring variant has been identified in 2 different studies.\r\n\r\n► Malhotra et al (2020 - PMID: 32820033) report on 10 unrelated individuals with de novo missense LMBRD2 variants. Features included DD (9/10), ID (6/8 of relevant age), microcephaly (7/10), seizures (5/10 - >=3 different variants), structural brain abnormalities (e.g. thin CC in 6/9), highly variable ocular abnormalities (5/10) and dysmorphic features in some (7/10 - nonspecific). All had variable prior non-diagnostic genetic tests (CMA, gene panel, mendeliome, karyotype). WES/WGS revealed LMBRD2 missense variants, in all cases de novo. A single individual had additional variants with weaker evidence of pathogenicity. 5 unique missense SNVs and 2 recurrent ones (NM_001007527:c.367T>C - p.Trp123Arg / c.1448G>A - p.Arg483His) were identified. These occurred in different exons. Variants were not present in gnomAD and all had several in silico predictions in favor of a deleterious effect. There was phenotypic variability among individuals with the same variant (e.g. seizures in 1/3 and microchephaly in 2/3 of those harboring R483H). The gene has a pLI of 0 (although o/e ranges from 0.23 to 0.55), %HI of 15.13 and z-score of 2.27. The authors presume that haploinsufficiency may not apply, and consider a gain-of-function/dominant-negative effect more likely. As the authors comment LMBRD2 (LMBR1 domain containing 2) encodes a membrane bound protein with poorly described function. It is widely expressed across tissues with notable expression in human brain (also in Drosophila, or Xenopus laevis). It displays high interspecies conservation. It has been suggested (Paek et al - PMID: 28388415) that LMBRD2 is a potential regulator of β2 adrenoreceptor signalling through involvement in GPCR signalling.\r\n\r\n► Kaplanis et al (2020 - https://doi.org/10.1101/797787) in a dataset of 31058 parent-offspring trios (WES) previously identified 3 individuals with developmental disorder, harboring c.1448G>A - p.Arg483His. These individuals (1 from the DDD study, and 2 GeneDx patients) appear in Decipher. [ https://decipher.sanger.ac.uk/ddd/research-variant/40e17c78cc9655a6721006fc1e0c98db/overview ]. The preprint by Kaplanis et al is cited by Malhotra et al, with Arg483His reported in 6 patients overall in both studies. \nSources: Literature","entity_name":"LMBRD2","entity_type":"gene"},{"created":"2020-08-23T11:17:56.753522+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.778","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LMBRD2 as Green List (high evidence)","entity_name":"LMBRD2","entity_type":"gene"},{"created":"2020-08-23T11:17:56.743718+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.778","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lmbrd2 has been classified as Green List (High Evidence).","entity_name":"LMBRD2","entity_type":"gene"},{"created":"2020-08-23T11:17:13.666594+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2855","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LMBRD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LMBRD2","entity_type":"gene"},{"created":"2020-08-23T11:16:29.821455+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2855","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LMBRD2 as ready","entity_name":"LMBRD2","entity_type":"gene"},{"created":"2020-08-23T11:16:29.813184+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2855","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lmbrd2 has been classified as Green List (High Evidence).","entity_name":"LMBRD2","entity_type":"gene"},{"created":"2020-08-23T11:16:11.220241+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2855","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LMBRD2 as Green List (high evidence)","entity_name":"LMBRD2","entity_type":"gene"},{"created":"2020-08-23T11:16:11.210498+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2855","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lmbrd2 has been classified as Green List (High Evidence).","entity_name":"LMBRD2","entity_type":"gene"},{"created":"2020-08-23T11:14:29.126440+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KAT5 were changed from  to Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face","entity_name":"KAT5","entity_type":"gene"},{"created":"2020-08-23T11:14:06.213034+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KAT5 were set to ","entity_name":"KAT5","entity_type":"gene"},{"created":"2020-08-23T11:13:40.153133+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: KAT5 was changed from  to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"KAT5","entity_type":"gene"},{"created":"2020-08-23T11:12:04.658333+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KAT5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KAT5","entity_type":"gene"},{"created":"2020-08-23T11:11:44.324412+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KAT5 as Amber List (moderate evidence)","entity_name":"KAT5","entity_type":"gene"},{"created":"2020-08-23T11:11:44.314329+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kat5 has been classified as Amber List (Moderate Evidence).","entity_name":"KAT5","entity_type":"gene"},{"created":"2020-08-23T11:11:02.147203+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KAT5: Added comment: Cerebellar atrophy reported in 2 of 3 individuals.; Changed rating: AMBER; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Changed publications: 32822602; Changed phenotypes: Severe global developmental delay, Intellectual disability, Seizures, Microcephaly, Behavioral abnormality, Sleep disturbance, Morphological abnormality of the central nervous system, Short stature, Oral cleft, Abnormality of the face; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KAT5","entity_type":"gene"},{"created":"2020-08-23T11:09:35.190329+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3871","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KAT5 were changed from  to Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face","entity_name":"KAT5","entity_type":"gene"},{"created":"2020-08-23T11:09:13.590549+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3870","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KAT5 were set to ","entity_name":"KAT5","entity_type":"gene"},{"created":"2020-08-23T11:08:58.533525+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3869","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: KAT5 was changed from  to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"KAT5","entity_type":"gene"},{"created":"2020-08-23T11:08:43.010146+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3868","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KAT5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KAT5","entity_type":"gene"},{"created":"2020-08-23T11:07:47.553100+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3867","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KAT5 as Green List (high evidence)","entity_name":"KAT5","entity_type":"gene"},{"created":"2020-08-23T11:07:47.542628+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3867","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kat5 has been classified as Green List (High Evidence).","entity_name":"KAT5","entity_type":"gene"},{"created":"2020-08-23T11:06:00.153850+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.777","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KAT5 as ready","entity_name":"KAT5","entity_type":"gene"},{"created":"2020-08-23T11:06:00.143636+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.777","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kat5 has been classified as Green List (High Evidence).","entity_name":"KAT5","entity_type":"gene"},{"created":"2020-08-23T11:05:50.798258+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.777","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KAT5 as Green List (high evidence)","entity_name":"KAT5","entity_type":"gene"},{"created":"2020-08-23T11:05:50.787927+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.777","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kat5 has been classified as Green List (High Evidence).","entity_name":"KAT5","entity_type":"gene"},{"created":"2020-08-23T11:05:05.551038+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2854","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KAT5 were changed from  to Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face","entity_name":"KAT5","entity_type":"gene"},{"created":"2020-08-23T11:04:42.060683+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2853","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KAT5 were set to ","entity_name":"KAT5","entity_type":"gene"},{"created":"2020-08-23T11:04:17.761395+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2852","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: KAT5 was changed from  to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"KAT5","entity_type":"gene"},{"created":"2020-08-23T11:03:49.882251+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2851","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KAT5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KAT5","entity_type":"gene"},{"created":"2020-08-23T11:02:09.939367+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2850","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KAT5 as Green List (high evidence)","entity_name":"KAT5","entity_type":"gene"},{"created":"2020-08-23T11:02:09.931512+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2850","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kat5 has been classified as Green List (High Evidence).","entity_name":"KAT5","entity_type":"gene"},{"created":"2020-08-23T07:51:08.275171+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2849","user_name":"Konstantinos Varvagiannis","item_type":"entity","text":"reviewed gene: KAT5: 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: 32822602; Phenotypes: Severe global developmental delay, Intellectual disability, Seizures, Microcephaly, Behavioral abnormality, Sleep disturbance, Morphological abnormality of the central nervous system, Short stature, Oral cleft, Abnormality of the face; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"KAT5","entity_type":"gene"},{"created":"2020-08-23T07:45:54.573521+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3866","user_name":"Konstantinos Varvagiannis","item_type":"entity","text":"reviewed gene: KAT5: 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: 32822602; Phenotypes: Severe global developmental delay, Intellectual disability, Seizures, Microcephaly, Behavioral abnormality, Sleep disturbance, Morphological abnormality of the central nervous system, Short stature, Oral cleft, Abnormality of the face; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"KAT5","entity_type":"gene"},{"created":"2020-08-23T07:45:43.752488+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.776","user_name":"Konstantinos Varvagiannis","item_type":"entity","text":"gene: KAT5 was added\ngene: KAT5 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: KAT5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KAT5 were set to 32822602\nPhenotypes for gene: KAT5 were set to Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face\nPenetrance for gene: KAT5 were set to unknown\nMode of pathogenicity for gene: KAT5 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: KAT5 was set to GREEN\nAdded comment: Humbert el al (2020 - PMID: 32822602) report 3 individuals with de novo missense KAT5 variants. \r\n\r\nFeatures included severe DD (3/3) and ID (2/2 - the 3rd was 18m on last examination), microcephaly (2/3), behavioral anomalies (3/3) including severe sleep disorder (3/3 - table S1 / night walking, sleep onset delay, excessive daytime sleepiness), seizures (3/3 - variable type and age of onset), brain MRI abnormalities (3/3 - CC, cerebellar atrophy each in 2 subjects, focal polymicrogyria in 1), various genitourinary anomalies (3/3). All had moderately short stature (-1.95 SD to -2.9SD). Cleft LP and submucous cleft P were observed in 2/3. Facial features included round face, flat profile, depressed nasal bridge, downturned corners of mouth and prognathism (each in at least 2 subjects).\r\n\r\nKAT5 encodes a lysine acetyltransferase involved in gene expression, DNA repair, chromatine remodeling, apoptosis and cell proliferation. It is part of the NuA4 histone acetyltransferase (HAT) complex also called TIP60/p400 (TIP60 being another name for KAT5). Regulation by histone acetylation is important for proper development. \r\n\r\n3 missense KAT5 SNVs were identified, one within the chromobarrel domain (aa 7-65 / NM_006388.3) and 2 in the acetyl-CoA binding domain (aa 365-420).  \r\n\r\nFollowing generation of K562 cells expressing either WT or variants, it was demonstrated that wt/mt KAT5 assemble normally into NuA4/TIP60 complexes. Histone acetyltransferase activity was however impaired for all variants, suggesting a partial loss of function mechanism.\r\n\r\nAs Humbert et al comment, it is possible that KAT5 haploinsufficiency does not lead to a \r\nsyndrome. Over 10 high-confidence LoF variants are listed in gnomAD. Heterozygous Kat5 ko mice have normal development, growth and fertility. Homozygous ko mice are embryonic lethal. In haploinsufficient mice, reduction of mRNA to 50% has been shown to be compensated at the protein level in adipose and/or other tissues (several studies cited). \r\n\r\nRNA-Seq in fibroblasts from 2 affected individuals revealed dysregulation of highly relevant genes (e.g. for neurodevelopment, circadian clock, etc).\r\n\r\nMutations in KAT6A/B, encoding two other acetyltransferases cause neurodevelopmental disorders with features overlapping those observed in individuals with KAT5 variants (e.g. DD/ID, microcephaly, seizures, sleep disturbance, clefts, CC or genital anomalies).\r\n\r\nConsider inclusion in the ID and epilepsy panels with green rating as well as the gene panel for clefting with amber. \nSources: Literature","entity_name":"KAT5","entity_type":"gene"},{"created":"2020-08-22T21:04:26.975369+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2849","user_name":"Konstantinos Varvagiannis","item_type":"entity","text":"gene: LMBRD2 was added\ngene: LMBRD2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: LMBRD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: LMBRD2 were set to 32820033; https://doi.org/10.1101/797787\nPhenotypes for gene: LMBRD2 were set to Global developmental delay; Intellectual disability; Microcephaly; Seizures; Abnormality of nervous system morphology; Abnormality of the eye\nPenetrance for gene: LMBRD2 were set to unknown\nMode of pathogenicity for gene: LMBRD2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: LMBRD2 was set to AMBER\nAdded comment: You may consider inclusion with green (13 individuals with dn missense SNVs overall, overlapping features for 10 with available phenotype / a recurring variant has been identified in 2 different studies) or amber rating (role of the gene not known, no variant studies, animal model probably not available). \r\n\r\n► Malhotra et al (2020 - PMID: 32820033) report on 10 unrelated individuals with de novo missense LMBRD2 variants.\r\n\r\nFeatures included DD (9/10), ID (6/8 of relevant age), microcephaly (7/10), seizures (5/10 - >=3 different variants), structural brain abnormalities (e.g. thin CC in 6/9), highly variable ocular abnormalities (5/10) and dysmorphic features in some (7/10 - nonspecific).\r\n\r\nAll had variable prior non-diagnostic genetic tests (CMA, gene panel, mendeliome, karyotype). WES/WGS revealed LMBRD2 missense variants, in all cases de novo. A single individual had additional variants with weaker evidence of pathogenicity.\r\n\r\n5 unique missense SNVs and 2 recurrent ones (NM_001007527:c.367T>C - p.Trp123Arg / c.1448G>A - p.Arg483His) were identified. These occurred in different exons. Variants were not present in gnomAD and all had several in silico predictions in favor of a deleterious effect. \r\n\r\nThere was phenotypic variability among individuals with the same variant (e.g. seizures in 1/3 and microchephaly in 2/3 of those harboring R483H). \r\n\r\nThe gene has a pLI of 0 (although o/e ranges from 0.23 to 0.55), %HI of 15.13 and z-score of 2.27. The authors presume that haploinsufficiency may not apply, and consider a gain-of-function/dominant-negative effect more likely.  \r\n\r\nAs the authors comment LMBRD2 (LMBR1 domain containing 2) encodes a membrane bound protein with poorly described function. It is widely expressed across tissues with notable expression in human brain (also in Drosophila, or Xenopus laevis). It displays high interspecies conservation. \r\n\r\nIt has been suggested (Paek et al - PMID: 28388415) that LMBRD2 is a potential regulator of β2 adrenoreceptor signalling through involvement in GPCR signalling.\r\n\r\n► Kaplanis et al (2020 - https://doi.org/10.1101/797787) in a dataset of 31058 parent-offspring trios (WES) previously identified 3 individuals with developmental disorder, harboring c.1448G>A - p.Arg483His. These individuals (1 from the DDD study, and 2 GeneDx patients) appear in Decipher. [ https://decipher.sanger.ac.uk/ddd/research-variant/40e17c78cc9655a6721006fc1e0c98db/overview ]. The preprint by Kaplanis et al is cited by Malhotra et al, with Arg483His reported in 6 patients overall in both studies. \nSources: Literature","entity_name":"LMBRD2","entity_type":"gene"},{"created":"2020-08-22T21:03:56.630841+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.776","user_name":"Konstantinos Varvagiannis","item_type":"entity","text":"gene: LMBRD2 was added\ngene: LMBRD2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: LMBRD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: LMBRD2 were set to 32820033; https://doi.org/10.1101/797787\nPhenotypes for gene: LMBRD2 were set to Global developmental delay; Intellectual disability; Microcephaly; Seizures; Abnormality of nervous system morphology; Abnormality of the eye\nPenetrance for gene: LMBRD2 were set to unknown\nMode of pathogenicity for gene: LMBRD2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: LMBRD2 was set to AMBER\nAdded comment: You may consider inclusion with green (13 individuals with dn missense SNVs overall, overlapping features for 10 with available phenotype / a recurring variant has been identified in 2 different studies) or amber rating (role of the gene not known, no variant studies, animal model probably not available). \r\n\r\n► Malhotra et al (2020 - PMID: 32820033) report on 10 unrelated individuals with de novo missense LMBRD2 variants.\r\n\r\nFeatures included DD (9/10), ID (6/8 of relevant age), microcephaly (7/10), seizures (5/10 - >=3 different variants), structural brain abnormalities (e.g. thin CC in 6/9), highly variable ocular abnormalities (5/10) and dysmorphic features in some (7/10 - nonspecific).\r\n\r\nAll had variable prior non-diagnostic genetic tests (CMA, gene panel, mendeliome, karyotype). WES/WGS revealed LMBRD2 missense variants, in all cases de novo. A single individual had additional variants with weaker evidence of pathogenicity.\r\n\r\n5 unique missense SNVs and 2 recurrent ones (NM_001007527:c.367T>C - p.Trp123Arg / c.1448G>A - p.Arg483His) were identified. These occurred in different exons. Variants were not present in gnomAD and all had several in silico predictions in favor of a deleterious effect. \r\n\r\nThere was phenotypic variability among individuals with the same variant (e.g. seizures in 1/3 and microchephaly in 2/3 of those harboring R483H). \r\n\r\nThe gene has a pLI of 0 (although o/e ranges from 0.23 to 0.55), %HI of 15.13 and z-score of 2.27. The authors presume that haploinsufficiency may not apply, and consider a gain-of-function/dominant-negative effect more likely.  \r\n\r\nAs the authors comment LMBRD2 (LMBR1 domain containing 2) encodes a membrane bound protein with poorly described function. It is widely expressed across tissues with notable expression in human brain (also in Drosophila, or Xenopus laevis). It displays high interspecies conservation. \r\n\r\nIt has been suggested (Paek et al - PMID: 28388415) that LMBRD2 is a potential regulator of β2 adrenoreceptor signalling through involvement in GPCR signalling.\r\n\r\n► Kaplanis et al (2020 - https://doi.org/10.1101/797787) in a dataset of 31058 parent-offspring trios (WES) previously identified 3 individuals with developmental disorder, harboring c.1448G>A - p.Arg483His. These individuals (1 from the DDD study, and 2 GeneDx patients) appear in Decipher. [ https://decipher.sanger.ac.uk/ddd/research-variant/40e17c78cc9655a6721006fc1e0c98db/overview ]. The preprint by Kaplanis et al is cited by Malhotra et al, with Arg483His reported in 6 patients overall in both studies. \nSources: Literature","entity_name":"LMBRD2","entity_type":"gene"},{"created":"2020-08-22T18:24:18.374614+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALPK3 as ready","entity_name":"ALPK3","entity_type":"gene"},{"created":"2020-08-22T18:24:18.364472+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alpk3 has been classified as Amber List (Moderate Evidence).","entity_name":"ALPK3","entity_type":"gene"},{"created":"2020-08-22T18:24:13.653678+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALPK3 as Amber List (moderate evidence)","entity_name":"ALPK3","entity_type":"gene"},{"created":"2020-08-22T18:24:13.644054+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alpk3 has been classified as Amber List (Moderate Evidence).","entity_name":"ALPK3","entity_type":"gene"},{"created":"2020-08-22T18:23:46.198464+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.185","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALPK3 was added\ngene: ALPK3 was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: ALPK3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALPK3 were set to 26846950\nPhenotypes for gene: ALPK3 were set to Cardiomyopathy, familial hypertrophic 27, MIM#\t618052\nReview for gene: ALPK3 was set to AMBER\nAdded comment: Severe neonatal presentation of cardiomyopathy with bi-allelic variants, including antenatal onset with hydrops in 2/7 reported individuals in PMID 26846950. \nSources: Expert list","entity_name":"ALPK3","entity_type":"gene"},{"created":"2020-08-22T18:13:43.601747+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BRAF as ready","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-08-22T18:13:43.593251+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: braf has been classified as Green List (High Evidence).","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-08-22T18:13:41.388452+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BRAF were changed from  to Cardiofaciocutaneous syndrome, MIM# 115150","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-08-22T18:13:11.200259+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: BRAF was changed from  to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-08-22T18:12:41.659446+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BRAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-08-22T18:12:13.752938+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiofaciocutaneous syndrome, MIM# 115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-08-22T18:09:48.537322+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ASAH1 as ready","entity_name":"ASAH1","entity_type":"gene"},{"created":"2020-08-22T18:09:48.529032+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asah1 has been classified as Green List (High Evidence).","entity_name":"ASAH1","entity_type":"gene"},{"created":"2020-08-22T18:09:45.901705+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ASAH1 were changed from  to Farber lipogranulomatosis, MIM# 228000","entity_name":"ASAH1","entity_type":"gene"},{"created":"2020-08-22T18:09:25.347774+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ASAH1 were set to ","entity_name":"ASAH1","entity_type":"gene"},{"created":"2020-08-22T18:09:03.595138+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ASAH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ASAH1","entity_type":"gene"},{"created":"2020-08-22T18:08:33.464918+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26578498; Phenotypes: Farber lipogranulomatosis, MIM# 228000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ASAH1","entity_type":"gene"},{"created":"2020-08-22T15:58:11.943396+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NIPBL as ready","entity_name":"NIPBL","entity_type":"gene"},{"created":"2020-08-22T15:58:11.933257+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nipbl has been classified as Red List (Low Evidence).","entity_name":"NIPBL","entity_type":"gene"},{"created":"2020-08-22T15:58:05.505822+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NIPBL was added\ngene: NIPBL was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NIPBL were set to 30712880\nPhenotypes for gene: NIPBL were set to Cornelia de Lange syndrome 1, MIM#\t122470\nReview for gene: NIPBL was set to RED\nAdded comment: Single case presenting as hydrops reported in PAGE study. \nSources: Expert list","entity_name":"NIPBL","entity_type":"gene"},{"created":"2020-08-22T15:50:34.644166+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.177","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FRAS1 as ready","entity_name":"FRAS1","entity_type":"gene"},{"created":"2020-08-22T15:50:34.635950+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.177","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fras1 has been classified as Amber List (Moderate Evidence).","entity_name":"FRAS1","entity_type":"gene"},{"created":"2020-08-22T15:50:30.731229+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.177","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FRAS1 as Amber List (moderate evidence)","entity_name":"FRAS1","entity_type":"gene"},{"created":"2020-08-22T15:50:30.723353+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.177","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fras1 has been classified as Amber List (Moderate Evidence).","entity_name":"FRAS1","entity_type":"gene"},{"created":"2020-08-22T15:50:06.101259+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FRAS1 was added\ngene: FRAS1 was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FRAS1 were set to 27859469\nPhenotypes for gene: FRAS1 were set to Fraser syndrome 1, MIM#\t219000\nReview for gene: FRAS1 was set to AMBER\nAdded comment: In a series of 38 antenatally ascertained cases, 9 had hydrops. However, 11/38 had molecular testing, and only 8 had molecularly confirmed diagnosis (FRAS1 variants, none in FREM2 or GRIP1). \nSources: Expert list","entity_name":"FRAS1","entity_type":"gene"},{"created":"2020-08-22T15:42:19.009236+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CLCNKB were set to ","entity_name":"CLCNKB","entity_type":"gene"},{"created":"2020-08-22T15:41:50.584631+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Typically Bartter syndrome presents with polyhydramnios antenatally, cannot find specific reference though OMIM lists hydrops as a feature. \nSources: Expert list; to: Typically Bartter syndrome presents with polyhydramnios antenatally, single case report of hydrops identified. \r\nSources: Expert list","entity_name":"CLCNKB","entity_type":"gene"},{"created":"2020-08-22T15:41:36.145117+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CLCNKB: Changed publications: 23484775","entity_name":"CLCNKB","entity_type":"gene"},{"created":"2020-08-22T15:41:19.539713+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CLCNKA were set to ","entity_name":"CLCNKA","entity_type":"gene"},{"created":"2020-08-22T15:40:54.403271+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Typically Bartter syndrome presents with polyhydramnios antenatally, single case report found. \r\nSources: Expert list; to: Typically Bartter syndrome presents with polyhydramnios antenatally, single case report of hydrops found. \r\nSources: Expert list","entity_name":"CLCNKA","entity_type":"gene"},{"created":"2020-08-22T15:40:44.864846+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Typically Bartter syndrome presents with polyhydramnios antenatally, cannot find specific reference though OMIM lists hydrops as a feature. \nSources: Expert list; to: Typically Bartter syndrome presents with polyhydramnios antenatally, single case report found. \r\nSources: Expert list","entity_name":"CLCNKA","entity_type":"gene"},{"created":"2020-08-22T15:40:25.900021+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CLCNKA: Changed publications: 23484775","entity_name":"CLCNKA","entity_type":"gene"},{"created":"2020-08-22T15:39:11.185883+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMB2 as ready","entity_name":"LAMB2","entity_type":"gene"},{"created":"2020-08-22T15:39:11.168744+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lamb2 has been classified as Red List (Low Evidence).","entity_name":"LAMB2","entity_type":"gene"},{"created":"2020-08-22T15:39:05.179429+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LAMB2 was added\ngene: LAMB2 was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LAMB2 were set to 16450351\nPhenotypes for gene: LAMB2 were set to Pierson syndrome, MIM#\t609049\nReview for gene: LAMB2 was set to RED\nAdded comment: Single family reported with antenatal presentation in four pregnancies, one had hydrops. \nSources: Expert list","entity_name":"LAMB2","entity_type":"gene"},{"created":"2020-08-22T12:16:44.234442+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ESCO2 as ready","entity_name":"ESCO2","entity_type":"gene"},{"created":"2020-08-22T12:16:44.226732+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: esco2 has been classified as Red List (Low Evidence).","entity_name":"ESCO2","entity_type":"gene"},{"created":"2020-08-22T12:16:36.284621+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ESCO2 was added\ngene: ESCO2 was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ESCO2 were set to 16547991\nPhenotypes for gene: ESCO2 were set to Roberts syndrome, MIM#\t268300\nReview for gene: ESCO2 was set to RED\nAdded comment: Single case report, diagnosis of Roberts syndrome not molecularly confirmed. Pregnancy complicated by T18 in other twin. \nSources: Expert list","entity_name":"ESCO2","entity_type":"gene"},{"created":"2020-08-22T12:13:49.842658+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC35D1 as ready","entity_name":"SLC35D1","entity_type":"gene"},{"created":"2020-08-22T12:13:49.824085+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc35d1 has been classified as Red List (Low Evidence).","entity_name":"SLC35D1","entity_type":"gene"},{"created":"2020-08-22T12:13:40.546806+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC35D1 was added\ngene: SLC35D1 was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC35D1 were set to 11200994\nPhenotypes for gene: SLC35D1 were set to Schneckenbecken dysplasia, MIM#\t269250\nReview for gene: SLC35D1 was set to RED\nAdded comment: Single case report of hydrops, no molecular testing. \nSources: Expert list","entity_name":"SLC35D1","entity_type":"gene"},{"created":"2020-08-22T12:10:40.671894+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NEK1 as ready","entity_name":"NEK1","entity_type":"gene"},{"created":"2020-08-22T12:10:40.663526+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nek1 has been classified as Green List (High Evidence).","entity_name":"NEK1","entity_type":"gene"},{"created":"2020-08-22T12:10:37.628043+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NEK1 were changed from  to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520","entity_name":"NEK1","entity_type":"gene"},{"created":"2020-08-22T12:10:08.562815+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NEK1 were set to ","entity_name":"NEK1","entity_type":"gene"},{"created":"2020-08-22T12:09:41.857043+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NEK1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NEK1","entity_type":"gene"},{"created":"2020-08-22T12:09:12.139514+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211617, 22499340; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NEK1","entity_type":"gene"},{"created":"2020-08-22T12:07:26.351413+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NEK1 as ready","entity_name":"NEK1","entity_type":"gene"}]}