{"count":220918,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1021","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1019","results":[{"created":"2022-01-27T14:21:44.239449+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2829","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NOVA2 were set to ","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T14:21:34.343562+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2828","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: NOVA2 was changed from  to Other","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T14:21:25.324141+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2827","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NOVA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T14:21:15.726539+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2826","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NOVA2 as Green List (high evidence)","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T14:21:15.714840+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2826","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nova2 has been classified as Green List (High Evidence).","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T14:21:05.420255+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2825","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Six individuals with de novo frameshift variants resulting in C-terminal extension suggesting partial LoF as mechanism. \nSources: Literature; to: Six individuals with de novo frameshift variants resulting in C-terminal extension suggesting partial LoF as mechanism. \r\n\r\nStructural brain abnormalities reported.\r\n\r\n\r\nSources: Literature","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T14:20:26.189887+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.320","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NOVA2 as ready","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T14:20:26.177679+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.320","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nova2 has been classified as Green List (High Evidence).","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T14:19:18.571898+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2825","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF26B as ready","entity_name":"KIF26B","entity_type":"gene"},{"created":"2022-01-27T14:19:18.545156+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2825","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif26b has been classified as Red List (Low Evidence).","entity_name":"KIF26B","entity_type":"gene"},{"created":"2022-01-27T14:19:11.667956+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2825","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KIF26B was added\ngene: KIF26B was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: KIF26B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF26B were set to 30151950\nPhenotypes for gene: KIF26B were set to Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis\nReview for gene: KIF26B was set to RED\nAdded comment: 1 report only of infant with progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis secondary to the involvement of anterior horn cells and ventral (motor) nerves. Whole exome sequencing on the trio identified a de novo KIF26B missense variant (p.Gly546Ser). Functional analysis of the variant protein in cultured cells revealed a reduction in the KIF26B protein's ability to promote cell adhesion, a defect that potentially contributes to its pathogenicity. \nSources: Expert Review","entity_name":"KIF26B","entity_type":"gene"},{"created":"2022-01-27T14:17:38.811826+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.95","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF26B as ready","entity_name":"KIF26B","entity_type":"gene"},{"created":"2022-01-27T14:17:38.801633+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.95","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif26b has been classified as Red List (Low Evidence).","entity_name":"KIF26B","entity_type":"gene"},{"created":"2022-01-27T14:17:31.238025+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.95","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KIF26B: Changed rating: RED","entity_name":"KIF26B","entity_type":"gene"},{"created":"2022-01-27T12:52:44.121865+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.95","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KIF26B was added\ngene: KIF26B was added to Microcephaly. Sources: Expert Review\nMode of inheritance for gene: KIF26B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF26B were set to 30151950\nPhenotypes for gene: KIF26B were set to Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis\nAdded comment: 1 report only of infant with progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis secondary to the involvement of anterior horn cells and ventral (motor) nerves. Whole exome sequencing on the trio identified a de novo KIF26B missense variant (p.Gly546Ser). Functional analysis of the variant protein in cultured cells revealed a reduction in the KIF26B protein's ability to promote cell adhesion, a defect that potentially contributes to its pathogenicity. \nSources: Expert Review","entity_name":"KIF26B","entity_type":"gene"},{"created":"2022-01-27T12:51:19.571351+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.320","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF26B as ready","entity_name":"KIF26B","entity_type":"gene"},{"created":"2022-01-27T12:51:19.559633+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.320","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif26b has been classified as Red List (Low Evidence).","entity_name":"KIF26B","entity_type":"gene"},{"created":"2022-01-27T12:51:12.805262+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.320","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KIF26B was added\ngene: KIF26B was added to Arthrogryposis. Sources: Expert Review\nMode of inheritance for gene: KIF26B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF26B were set to 30151950\nPhenotypes for gene: KIF26B were set to Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis\nReview for gene: KIF26B was set to RED\nAdded comment: 1 report only of infant with progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis secondary to the involvement of anterior horn cells and ventral (motor) nerves. Whole exome sequencing on the trio identified a de novo KIF26B missense variant (p.Gly546Ser). Functional analysis of the variant protein in cultured cells revealed a reduction in the KIF26B protein's ability to promote cell adhesion, a defect that potentially contributes to its pathogenicity. \nSources: Expert Review","entity_name":"KIF26B","entity_type":"gene"},{"created":"2022-01-27T12:49:13.986859+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.43","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:AL592103.1 from the panel","entity_name":null,"entity_type":null},{"created":"2022-01-27T12:48:25.359998+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.42","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF26B as ready","entity_name":"KIF26B","entity_type":"gene"},{"created":"2022-01-27T12:48:25.348654+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.42","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif26b has been classified as Red List (Low Evidence).","entity_name":"KIF26B","entity_type":"gene"},{"created":"2022-01-27T12:48:18.708480+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.42","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KIF26B was added\ngene: KIF26B was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review\nMode of inheritance for gene: KIF26B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF26B were set to 30151950\nPhenotypes for gene: KIF26B were set to Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis\nReview for gene: KIF26B was set to RED\nAdded comment: 1 report only of infant with progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis secondary to the involvement of anterior horn cells and ventral (motor) nerves. Whole exome sequencing on the trio identified a de novo KIF26B missense variant (p.Gly546Ser). Functional analysis of the variant protein in cultured cells revealed a reduction in the KIF26B protein's ability to promote cell adhesion, a defect that potentially contributes to its pathogenicity. \nSources: Expert Review","entity_name":"KIF26B","entity_type":"gene"},{"created":"2022-01-27T12:46:48.623724+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10796","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF26B as ready","entity_name":"KIF26B","entity_type":"gene"},{"created":"2022-01-27T12:46:48.613757+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10796","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif26b has been classified as Red List (Low Evidence).","entity_name":"KIF26B","entity_type":"gene"},{"created":"2022-01-27T12:46:03.753414+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10796","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KIF26B was added\ngene: KIF26B was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: KIF26B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF26B were set to 30151950\nPhenotypes for gene: KIF26B were set to Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis\nReview for gene: KIF26B was set to RED\nAdded comment: 1 report only of infant with progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis secondary to the involvement of anterior horn cells and ventral (motor) nerves. Whole exome sequencing on the trio identified a de novo KIF26B missense variant (p.Gly546Ser). Functional analysis of the variant protein in cultured cells revealed a reduction in the KIF26B protein's ability to promote cell adhesion, a defect that potentially contributes to its pathogenicity. \nSources: Expert Review","entity_name":"KIF26B","entity_type":"gene"},{"created":"2022-01-27T11:43:17.878700+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2824","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: ACP5 as ready","entity_name":"ACP5","entity_type":"gene"},{"created":"2022-01-27T11:43:17.865475+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2824","user_name":"Alison Yeung","item_type":"entity","text":"Gene: acp5 has been classified as Green List (High Evidence).","entity_name":"ACP5","entity_type":"gene"},{"created":"2022-01-27T11:43:01.194905+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2824","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: ACP5 were changed from SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION to Spondyloenchondrodysplasia with immune dysregulation, OMIM# 607944","entity_name":"ACP5","entity_type":"gene"},{"created":"2022-01-27T11:41:58.005908+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2823","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: ACP5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26854080, 26951490, 21217755, 26789720, 2363422, 21217752; Phenotypes: Spondyloenchondrodysplasia with immune dysregulation, OMIM# 607944; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"ACP5","entity_type":"gene"},{"created":"2022-01-27T11:39:41.809594+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10795","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: ACP5 as ready","entity_name":"ACP5","entity_type":"gene"},{"created":"2022-01-27T11:39:41.798237+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10795","user_name":"Alison Yeung","item_type":"entity","text":"Gene: acp5 has been classified as Green List (High Evidence).","entity_name":"ACP5","entity_type":"gene"},{"created":"2022-01-27T11:39:08.083431+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10795","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: ACP5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26854080, 26951490, 21217755, 26789720, 2363422, 21217752; Phenotypes: spondyloenchondrodysplasia with immune dysregulation, OMIM# 607944; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"ACP5","entity_type":"gene"},{"created":"2022-01-27T11:34:19.716701+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10795","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: ACP2 as ready","entity_name":"ACP2","entity_type":"gene"},{"created":"2022-01-27T11:34:19.706401+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10795","user_name":"Alison Yeung","item_type":"entity","text":"Gene: acp2 has been classified as Red List (Low Evidence).","entity_name":"ACP2","entity_type":"gene"},{"created":"2022-01-27T11:34:11.396285+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10795","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: ACP2 as Red List (low evidence)","entity_name":"ACP2","entity_type":"gene"},{"created":"2022-01-27T11:34:11.385460+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10795","user_name":"Alison Yeung","item_type":"entity","text":"Gene: acp2 has been classified as Red List (Low Evidence).","entity_name":"ACP2","entity_type":"gene"},{"created":"2022-01-27T11:33:44.745623+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10794","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: ACP2: Rating: RED; Mode of pathogenicity: None; Publications: 5410815; Phenotypes: Lysosomal acid phosphatase deficiency, OMIM# 200950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACP2","entity_type":"gene"},{"created":"2022-01-27T11:25:28.904562+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2823","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: ACAN as ready","entity_name":"ACAN","entity_type":"gene"},{"created":"2022-01-27T11:25:28.887613+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2823","user_name":"Alison Yeung","item_type":"entity","text":"Gene: acan has been classified as Green List (High Evidence).","entity_name":"ACAN","entity_type":"gene"},{"created":"2022-01-27T11:24:41.962879+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2823","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: ACAN: Rating: GREEN; Mode of pathogenicity: None; Publications: 24762113, 27870580, 19110214, 30124491, 28331218, 20137779; Phenotypes: Spondyloepimetaphyseal dysplasia, aggrecan type, OMIM# 612813, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM# 165800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"ACAN","entity_type":"gene"},{"created":"2022-01-27T11:19:34.173918+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.41","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TBCE as Green List (high evidence)","entity_name":"TBCE","entity_type":"gene"},{"created":"2022-01-27T11:19:34.164438+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.41","user_name":"Chirag Patel","item_type":"entity","text":"Gene: tbce has been classified as Green List (High Evidence).","entity_name":"TBCE","entity_type":"gene"},{"created":"2022-01-27T11:18:47.497893+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.320","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TBCE as Green List (high evidence)","entity_name":"TBCE","entity_type":"gene"},{"created":"2022-01-27T11:18:47.487657+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.320","user_name":"Chirag Patel","item_type":"entity","text":"Gene: tbce has been classified as Green List (High Evidence).","entity_name":"TBCE","entity_type":"gene"},{"created":"2022-01-27T11:18:10.053363+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.40","user_name":"Chirag Patel","item_type":"entity","text":"gene: TBCE was added\ngene: TBCE was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBCE were set to PubMed: 27666369\nPhenotypes for gene: TBCE were set to Encephalopathy, progressive, with amyotrophy and optic atrophy, OMIM #617207\nReview for gene: TBCE was set to GREEN\nAdded comment: 5 patients from 3 unrelated Italian families with progressive encephalopathy with amyotrophy and optic atrophy (PEAMO), and biallelic variants in TCBE gene (WES or Sanger). PEAMO is a severe autosomal recessive neurodegenerative disorder characterized by delayed development with hypotonia apparent in infancy and subsequent motor regression. Most affected individuals are unable to or lose the ability to sit and show distal amyotrophy and weakness of all 4 limbs. The patients are cognitively impaired and unable to speak or have severe dysarthria. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy. \nSources: Literature","entity_name":"TBCE","entity_type":"gene"},{"created":"2022-01-27T11:17:58.070814+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.319","user_name":"Chirag Patel","item_type":"entity","text":"gene: TBCE was added\ngene: TBCE was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBCE were set to PubMed: 27666369\nPhenotypes for gene: TBCE were set to Encephalopathy, progressive, with amyotrophy and optic atrophy, OMIM #617207\nReview for gene: TBCE was set to GREEN\nAdded comment: 5 patients from 3 unrelated Italian families with progressive encephalopathy with amyotrophy and optic atrophy (PEAMO), and biallelic variants in TCBE gene (WES or Sanger). PEAMO is a severe autosomal recessive neurodegenerative disorder characterized by delayed development with hypotonia apparent in infancy and subsequent motor regression. Most affected individuals are unable to or lose the ability to sit and show distal amyotrophy and weakness of all 4 limbs. The patients are cognitively impaired and unable to speak or have severe dysarthria. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy. \nSources: Literature","entity_name":"TBCE","entity_type":"gene"},{"created":"2022-01-27T11:09:40.613540+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.39","user_name":"Chirag Patel","item_type":"entity","text":"gene: PIK3R5 was added\ngene: PIK3R5 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: PIK3R5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIK3R5 were set to PubMed: 22065524\nPhenotypes for gene: PIK3R5 were set to Ataxia-oculomotor apraxia 3, OMIM #615217\nReview for gene: PIK3R5 was set to RED\nAdded comment: Al Tassan et al. (2012) reported 4 sibs, from consanguineous Saudi Arabian family, with ataxia-oculomotor apraxia. The proband developed progressive unsteady gait and had frequent falls at age 14 years with later onset of arm dysmetria and dysarthria. He became wheelchair-bound at age 23. Ocular movement was impaired, with slowed saccadic eye movements and head-eye lag resulting in head thrust, but smooth pursuit was normal. He had severe limb and axial dysmetria with mild distal atrophy and weakness affecting the lower limbs more than the upper limbs. He also had distal sensory impairment, more prominent in the lower limbs, areflexia, and axonal sensory polyneuropathy with absent sensory nerve action potentials in the lower limbs. Laboratory studies showed increased level of alpha-fetoprotein, and brain MRI showed atrophy of the cerebellar folia and vermis. His 3 sibs were similarly affected. A homozygous mutation in the PIK3R5 gene (P629S) was found by linkage analysis followed by sequencing of the genes within the region. \nSources: Literature","entity_name":"PIK3R5","entity_type":"gene"},{"created":"2022-01-27T11:09:22.135143+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.318","user_name":"Chirag Patel","item_type":"entity","text":"gene: PIK3R5 was added\ngene: PIK3R5 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: PIK3R5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIK3R5 were set to PubMed: 22065524\nPhenotypes for gene: PIK3R5 were set to Ataxia-oculomotor apraxia 3, OMIM #615217\nReview for gene: PIK3R5 was set to RED\nAdded comment: Al Tassan et al. (2012) reported 4 sibs, from consanguineous Saudi Arabian family, with ataxia-oculomotor apraxia. The proband developed progressive unsteady gait and had frequent falls at age 14 years with later onset of arm dysmetria and dysarthria. He became wheelchair-bound at age 23. Ocular movement was impaired, with slowed saccadic eye movements and head-eye lag resulting in head thrust, but smooth pursuit was normal. He had severe limb and axial dysmetria with mild distal atrophy and weakness affecting the lower limbs more than the upper limbs. He also had distal sensory impairment, more prominent in the lower limbs, areflexia, and axonal sensory polyneuropathy with absent sensory nerve action potentials in the lower limbs. Laboratory studies showed increased level of alpha-fetoprotein, and brain MRI showed atrophy of the cerebellar folia and vermis. His 3 sibs were similarly affected. A homozygous mutation in the PIK3R5 gene (P629S) was found by linkage analysis followed by sequencing of the genes within the region. \nSources: Literature","entity_name":"PIK3R5","entity_type":"gene"},{"created":"2022-01-27T10:55:56.321596+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.317","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PIGS as Green List (high evidence)","entity_name":"PIGS","entity_type":"gene"},{"created":"2022-01-27T10:55:56.309827+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.317","user_name":"Chirag Patel","item_type":"entity","text":"Gene: pigs has been classified as Green List (High Evidence).","entity_name":"PIGS","entity_type":"gene"},{"created":"2022-01-27T10:55:39.581096+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.316","user_name":"Chirag Patel","item_type":"entity","text":"gene: PIGS was added\ngene: PIGS was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIGS were set to PubMed: 30269814, 33410539\nPhenotypes for gene: PIGS were set to Developmental and epileptic encephalopathy 95, OMIM # 618143\nReview for gene: PIGS was set to GREEN\nAdded comment: DEE95 is a severe autosomal recessive developmental disorder characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures. Mutiple patients reported with biallelic variants. Some functional evidence with decreased levels of GPI-anchored proteins compared to controls. \nSources: Literature","entity_name":"PIGS","entity_type":"gene"},{"created":"2022-01-27T10:39:18.784211+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.315","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: NUBPL as Green List (high evidence)","entity_name":"NUBPL","entity_type":"gene"},{"created":"2022-01-27T10:39:18.774669+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.315","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nubpl has been classified as Green List (High Evidence).","entity_name":"NUBPL","entity_type":"gene"},{"created":"2022-01-27T10:38:00.391038+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.314","user_name":"Chirag Patel","item_type":"entity","text":"gene: NUBPL was added\ngene: NUBPL was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUBPL were set to PubMed: 23553477, 32518176,\nPhenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency, nuclear type 21, OMIM # 618242\nReview for gene: NUBPL was set to GREEN\nAdded comment: Many patients reported with biallelic variants in gene with mitochondrial complex I deficiency. Presents with various neurodevelopmental issues including ataxia. \nSources: Literature","entity_name":"NUBPL","entity_type":"gene"},{"created":"2022-01-27T10:33:04.973027+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.38","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: NOVA2 as Green List (high evidence)","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T10:33:04.962298+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.38","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nova2 has been classified as Green List (High Evidence).","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T10:32:49.035717+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.38","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: NOVA2 as Green List (high evidence)","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T10:32:49.018699+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.38","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nova2 has been classified as Green List (High Evidence).","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T10:32:46.385700+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.313","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: NOVA2 as Green List (high evidence)","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T10:32:46.374549+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.313","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nova2 has been classified as Green List (High Evidence).","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T10:32:40.942804+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.313","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: NOVA2 as Green List (high evidence)","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T10:32:40.930650+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.313","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nova2 has been classified as Green List (High Evidence).","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T10:32:02.840640+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.37","user_name":"Chirag Patel","item_type":"entity","text":"gene: NOVA2 was added\ngene: NOVA2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NOVA2 were set to PMID: 32197073\nPhenotypes for gene: NOVA2 were set to Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM #618859\nReview for gene: NOVA2 was set to GREEN\nAdded comment: Six individuals with de novo frameshift variants resulting in C-terminal extension suggesting partial LoF as mechanism. Early-onset neurologic disorder characterized by global developmental delay, poor or absent speech and language development, and behavioral abnormalities reminiscent of autism spectrum disorder. Additional features may include poor overall growth with small head circumference, axial hypotonia, spasticity, and seizures. Some patients have abnormal findings on brain imaging, including cerebral atrophy, cerebellar atrophy, and/or thin corpus callosum. \nSources: Literature","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T10:31:59.213516+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.312","user_name":"Chirag Patel","item_type":"entity","text":"gene: NOVA2 was added\ngene: NOVA2 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NOVA2 were set to PMID: 32197073\nPhenotypes for gene: NOVA2 were set to Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM #618859\nReview for gene: NOVA2 was set to GREEN\nAdded comment: Six individuals with de novo frameshift variants resulting in C-terminal extension suggesting partial LoF as mechanism. Early-onset neurologic disorder characterized by global developmental delay, poor or absent speech and language development, and behavioral abnormalities reminiscent of autism spectrum disorder. Additional features may include poor overall growth with small head circumference, axial hypotonia, spasticity, and seizures. Some patients have abnormal findings on brain imaging, including cerebral atrophy, cerebellar atrophy, and/or thin corpus callosum. \nSources: Literature","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T10:22:25.109899+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.36","user_name":"Chirag Patel","item_type":"entity","text":"gene: AL592103.1 was added\ngene: AL592103.1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: AL592103.1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AL592103.1 were set to PMID: 30151950\nPhenotypes for gene: AL592103.1 were set to Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis\nReview for gene: AL592103.1 was set to RED\nAdded comment: 1 report only of infant with progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis secondary to the involvement of anterior horn cells and ventral (motor) nerves. Whole exome sequencing on the trio identified a de novo KIF26B missense variant (p.Gly546Ser). Functional analysis of the variant protein in cultured cells revealed a reduction in the KIF26B protein's ability to promote cell adhesion, a defect that potentially contributes to its pathogenicity. \nSources: Literature","entity_name":"AL592103.1","entity_type":"gene"},{"created":"2022-01-27T10:20:10.527125+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1434","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC45A1 as ready","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2022-01-27T10:20:10.511411+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1434","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc45a1 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2022-01-27T10:20:07.276296+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1434","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC45A1 were changed from  to Intellectual developmental disorder with neuropsychiatric features, MIM# 617532","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2022-01-27T10:19:31.256650+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1433","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC45A1 were set to ","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2022-01-27T10:19:02.245336+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1432","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC45A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2022-01-27T10:18:33.681206+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1431","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC45A1 as Amber List (moderate evidence)","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2022-01-27T10:18:33.670251+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1431","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc45a1 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2022-01-27T10:17:31.722830+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2823","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC45A1 as ready","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2022-01-27T10:17:31.706756+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2823","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc45a1 has been classified as Red List (Low Evidence).","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2022-01-27T10:17:26.969711+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2823","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC45A1 were changed from Intellectual disability and epilepsy to Intellectual developmental disorder with neuropsychiatric features, MIM# 617532","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2022-01-27T10:17:13.350606+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2822","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC45A1 were set to ","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2022-01-27T10:17:03.269531+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2821","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC45A1 as Red List (low evidence)","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2022-01-27T10:17:03.255693+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2821","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc45a1 has been classified as Red List (Low Evidence).","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2022-01-27T10:16:51.295288+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2820","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present.\r\n\r\nTwo families reported and some functional data.; to: Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present.\r\n\r\nTwo families reported and some functional data.\r\n\r\nClinical presentation is typically post-natal.","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2022-01-27T10:16:18.948666+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2820","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC45A1: Changed rating: RED","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2022-01-27T10:15:47.529530+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2820","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC35A1 as ready","entity_name":"SLC35A1","entity_type":"gene"},{"created":"2022-01-27T10:15:47.517708+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2820","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc35a1 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC35A1","entity_type":"gene"},{"created":"2022-01-27T10:15:43.643456+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2820","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC35A1 were changed from CONGENITAL DISORDERS OF GLYCOSYLATION to Congenital disorder of glycosylation, type IIf, MIM# 603585","entity_name":"SLC35A1","entity_type":"gene"},{"created":"2022-01-27T10:15:32.000738+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2819","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC35A1 were set to ","entity_name":"SLC35A1","entity_type":"gene"},{"created":"2022-01-27T10:15:06.955140+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2818","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Three unrelated families reported.; to: Three unrelated families reported, variable severity, including onset. Microcephaly reported, but onset uncertain.","entity_name":"SLC35A1","entity_type":"gene"},{"created":"2022-01-27T10:14:43.653709+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2818","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC35A1: Changed rating: AMBER","entity_name":"SLC35A1","entity_type":"gene"},{"created":"2022-01-27T10:12:21.135059+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.311","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BRAT1 as ready","entity_name":"BRAT1","entity_type":"gene"},{"created":"2022-01-27T10:12:21.121189+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.311","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: brat1 has been classified as Green List (High Evidence).","entity_name":"BRAT1","entity_type":"gene"},{"created":"2022-01-27T10:12:17.753129+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.311","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BRAT1 were set to PMID: 26483087, 26494257, 27282546","entity_name":"BRAT1","entity_type":"gene"},{"created":"2022-01-27T10:11:53.449462+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BRAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BRAT1","entity_type":"gene"},{"created":"2022-01-27T10:10:31.198620+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.35","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BRAT1 as ready","entity_name":"BRAT1","entity_type":"gene"},{"created":"2022-01-27T10:10:31.189166+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: brat1 has been classified as Green List (High Evidence).","entity_name":"BRAT1","entity_type":"gene"},{"created":"2022-01-27T10:10:28.163554+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.35","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BRAT1 were set to PMID: 26483087, 26494257, 27282546","entity_name":"BRAT1","entity_type":"gene"},{"created":"2022-01-27T10:08:54.508068+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10794","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHP1 as ready","entity_name":"CHP1","entity_type":"gene"},{"created":"2022-01-27T10:08:54.496968+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10794","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chp1 has been classified as Green List (High Evidence).","entity_name":"CHP1","entity_type":"gene"},{"created":"2022-01-27T10:08:44.082741+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10794","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CHP1 as Green List (high evidence)","entity_name":"CHP1","entity_type":"gene"},{"created":"2022-01-27T10:08:44.072003+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10794","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chp1 has been classified as Green List (High Evidence).","entity_name":"CHP1","entity_type":"gene"},{"created":"2022-01-27T10:08:25.450361+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10793","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHP1 was added\ngene: CHP1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: CHP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHP1 were set to 29379881; 32787936\nPhenotypes for gene: CHP1 were set to Spastic ataxia 9, autosomal recessive, MIM #618438\nReview for gene: CHP1 was set to GREEN\nAdded comment: 2 different consanguineous families with 2 affected siblings with ataxia (1 paediatric onset, 1 adult onset). 3 of the patients had cerebellar atrophy. WES identified homozygous variants in CHP1 gene in both families (K19del and Arg91Cys), which segregated with the disorder in the family.\r\n\r\nDecreased CHP1 protein on IHC of cerebellar tissue in family with Arg91Cys variant. In vitro functional expression studies in HEK293 cells showed that the K19del mutation resulted in decreased protein expression, with normal levels of transcript, suggesting defects in protein stability. The mutant protein formed massive protein aggregates in transfected neuronal cell bodies and neurite-like projections, whereas the wildtype protein showed a more uniform distribution. The mutant protein altered CHP1 association into functional complexes and impaired membrane localization of the Na+/H+ transporter NHE1. The findings indicated that the CHP1 mutation likely causes ataxia in an NHE1-dependent manner, resembling the mechanism observed in the Chp1 vacillator mutant mouse. \nSources: Expert Review","entity_name":"CHP1","entity_type":"gene"},{"created":"2022-01-27T10:06:49.797385+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHP1 as ready","entity_name":"CHP1","entity_type":"gene"},{"created":"2022-01-27T10:06:49.787746+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chp1 has been classified as Amber List (Moderate Evidence).","entity_name":"CHP1","entity_type":"gene"}]}