{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=600","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=598","results":[{"created":"2023-05-30T17:13:42.422508+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.46","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FAR1 as ready","entity_name":"FAR1","entity_type":"gene"},{"created":"2023-05-30T17:13:42.414391+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.46","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: far1 has been classified as Green List (High Evidence).","entity_name":"FAR1","entity_type":"gene"},{"created":"2023-05-30T17:13:38.080253+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.46","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FAR1 as Green List (high evidence)","entity_name":"FAR1","entity_type":"gene"},{"created":"2023-05-30T17:13:38.069154+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.46","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: far1 has been classified as Green List (High Evidence).","entity_name":"FAR1","entity_type":"gene"},{"created":"2023-05-30T17:12:45.440407+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.45","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FARS2 as ready","entity_name":"FARS2","entity_type":"gene"},{"created":"2023-05-30T17:12:45.421814+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.45","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fars2 has been classified as Green List (High Evidence).","entity_name":"FARS2","entity_type":"gene"},{"created":"2023-05-30T17:12:40.308994+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.45","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FARS2 as Green List (high evidence)","entity_name":"FARS2","entity_type":"gene"},{"created":"2023-05-30T17:12:40.298363+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.45","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fars2 has been classified as Green List (High Evidence).","entity_name":"FARS2","entity_type":"gene"},{"created":"2023-05-30T17:11:52.159888+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.44","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATM as ready","entity_name":"ATM","entity_type":"gene"},{"created":"2023-05-30T17:11:52.151192+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.44","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atm has been classified as Green List (High Evidence).","entity_name":"ATM","entity_type":"gene"},{"created":"2023-05-30T17:11:35.188381+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.44","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATM as Green List (high evidence)","entity_name":"ATM","entity_type":"gene"},{"created":"2023-05-30T17:11:35.179712+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.44","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atm has been classified as Green List (High Evidence).","entity_name":"ATM","entity_type":"gene"},{"created":"2023-05-30T17:10:45.683037+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.43","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FH as ready","entity_name":"FH","entity_type":"gene"},{"created":"2023-05-30T17:10:45.674054+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.43","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fh has been classified as Green List (High Evidence).","entity_name":"FH","entity_type":"gene"},{"created":"2023-05-30T17:10:40.664272+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.43","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FH as Green List (high evidence)","entity_name":"FH","entity_type":"gene"},{"created":"2023-05-30T17:10:40.656233+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.43","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fh has been classified as Green List (High Evidence).","entity_name":"FH","entity_type":"gene"},{"created":"2023-05-30T17:02:38.847265+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.42","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FLNA as ready","entity_name":"FLNA","entity_type":"gene"},{"created":"2023-05-30T17:02:38.837870+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.42","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flna has been classified as Red List (Low Evidence).","entity_name":"FLNA","entity_type":"gene"},{"created":"2023-05-30T16:59:28.991532+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.42","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FLNA were changed from Cardiac valvular dysplasia MIM#314400; Congenital short bowel syndrome\tMIM#300048; Frontometaphyseal dysplasia MIM#305620; Heterotopia, periventricular MIM#300049; Intestinal pseudoobstruction MIM#300048; Melnick-Needles syndrome MIM#309350; Otopalatodigital syndrome I MIM#311300; Otopalatodigital syndrome II MIM# 304120; Terminal osseous dysplasia MIM#300244 to Heterotopia, periventricular, 1, MIM#300049","entity_name":"FLNA","entity_type":"gene"},{"created":"2023-05-30T16:58:53.564952+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.41","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FLNA as Red List (low evidence)","entity_name":"FLNA","entity_type":"gene"},{"created":"2023-05-30T16:58:53.556999+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.41","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flna has been classified as Red List (Low Evidence).","entity_name":"FLNA","entity_type":"gene"},{"created":"2023-05-30T16:58:23.208977+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FLNA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Heterotopia, periventricular, 1, MIM#300049; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"FLNA","entity_type":"gene"},{"created":"2023-05-30T16:38:29.587062+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FRRS1L as ready","entity_name":"FRRS1L","entity_type":"gene"},{"created":"2023-05-30T16:38:29.575985+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: frrs1l has been classified as Amber List (Moderate Evidence).","entity_name":"FRRS1L","entity_type":"gene"},{"created":"2023-05-30T16:38:24.920126+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FRRS1L as Amber List (moderate evidence)","entity_name":"FRRS1L","entity_type":"gene"},{"created":"2023-05-30T16:38:24.912103+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: frrs1l has been classified as Amber List (Moderate Evidence).","entity_name":"FRRS1L","entity_type":"gene"},{"created":"2023-05-30T16:37:55.921150+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.39","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FRRS1L: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy MIM#616981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FRRS1L","entity_type":"gene"},{"created":"2023-05-30T16:32:04.983389+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.39","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GABRB1 as ready","entity_name":"GABRB1","entity_type":"gene"},{"created":"2023-05-30T16:32:04.971319+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.39","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gabrb1 has been classified as Red List (Low Evidence).","entity_name":"GABRB1","entity_type":"gene"},{"created":"2023-05-30T16:32:00.970265+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.39","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GABRB1 as Red List (low evidence)","entity_name":"GABRB1","entity_type":"gene"},{"created":"2023-05-30T16:32:00.962403+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.39","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gabrb1 has been classified as Red List (Low Evidence).","entity_name":"GABRB1","entity_type":"gene"},{"created":"2023-05-30T16:31:09.201926+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.38","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GABRB2 as ready","entity_name":"GABRB2","entity_type":"gene"},{"created":"2023-05-30T16:31:09.183227+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gabrb2 has been classified as Amber List (Moderate Evidence).","entity_name":"GABRB2","entity_type":"gene"},{"created":"2023-05-30T16:31:04.511621+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.38","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GABRB2 as Amber List (moderate evidence)","entity_name":"GABRB2","entity_type":"gene"},{"created":"2023-05-30T16:31:04.500898+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gabrb2 has been classified as Amber List (Moderate Evidence).","entity_name":"GABRB2","entity_type":"gene"},{"created":"2023-05-30T16:30:23.003483+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.37","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GCDH as ready","entity_name":"GCDH","entity_type":"gene"},{"created":"2023-05-30T16:30:22.994669+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gcdh has been classified as Amber List (Moderate Evidence).","entity_name":"GCDH","entity_type":"gene"},{"created":"2023-05-30T16:30:18.637227+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.37","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GCDH as Amber List (moderate evidence)","entity_name":"GCDH","entity_type":"gene"},{"created":"2023-05-30T16:30:18.628715+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gcdh has been classified as Amber List (Moderate Evidence).","entity_name":"GCDH","entity_type":"gene"},{"created":"2023-05-30T16:09:22.488075+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.36","user_name":"Luisa Weiss","item_type":"entity","text":"gene: GCDH was added\ngene: GCDH was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GCDH were set to 30542205; 26593172\nPhenotypes for gene: GCDH were set to Glutaricaciduria, type I MIM#231670\nReview for gene: GCDH was set to AMBER\nAdded comment: One case in a larger cohort study of patients with atypical CP, no mutation information given. One case report of one boy diagnosed with dystonic CP and homozygous missense mutation in GCDH with biochemically corresponding features. \nSources: Literature","entity_name":"GCDH","entity_type":"gene"},{"created":"2023-05-30T09:49:39.165011+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.36","user_name":"Luisa Weiss","item_type":"entity","text":"gene: GABRB2 was added\ngene: GABRB2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: GABRB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GABRB2 were set to 33528536\nPhenotypes for gene: GABRB2 were set to Developmental and epileptic encephalopathy MIM#617829\nReview for gene: GABRB2 was set to AMBER\nAdded comment: Two cases in a large CP cohort study with heterozygous de novo mutations in GABRB2. \nSources: Literature","entity_name":"GABRB2","entity_type":"gene"},{"created":"2023-05-30T09:26:23.240562+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.36","user_name":"Luisa Weiss","item_type":"entity","text":"gene: GABRB1 was added\ngene: GABRB1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: GABRB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GABRB1 were set to 34540776\nPhenotypes for gene: GABRB1 were set to Developmental and epileptic encephalopathy MIM#617153\nReview for gene: GABRB1 was set to RED\nAdded comment: One large cohort study on CP patients from Iran presents one patient with a heterozygous mutation in GABRB1 and atypical CP with developmental delay, ID and microcephaly. The patient's mutation (NM_000812:c.1243G>C,p.G415R) is present in a heterozygous state in the patient and no information about inheritance is given. The authors propose a recessively inherited disease. The variant is classified as a variant of unknown significance in this paper. \nSources: Literature","entity_name":"GABRB1","entity_type":"gene"},{"created":"2023-05-29T16:35:26.715304+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.36","user_name":"Luisa Weiss","item_type":"entity","text":"gene: FRRS1L was added\ngene: FRRS1L was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: FRRS1L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FRRS1L were set to 33528536; 27236917\nPhenotypes for gene: FRRS1L were set to Developmental and epileptic encephalopathy MIM#616981\nReview for gene: FRRS1L was set to GREEN\nAdded comment: Three independent patients in a large CP cohort study with the same recurrent homozygous mutation (NM_014334:c.735_737del,p.245_246del). \r\nAnother cohort study of multiple patients with biallelic FRRS1L mutations and epileptic-dyskinetic encephalopathy described on patient (individual 4_II-1) with non-progressive movement disorder in addition to epilepsy. \nSources: Literature","entity_name":"FRRS1L","entity_type":"gene"},{"created":"2023-05-29T16:14:06.526222+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.36","user_name":"Luisa Weiss","item_type":"entity","text":"gene: FLNA was added\ngene: FLNA was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: FLNA were set to 29706646; 34077496; 25817843\nPhenotypes for gene: FLNA were set to Cardiac valvular dysplasia MIM#314400; Congenital short bowel syndrome\tMIM#300048; Frontometaphyseal dysplasia MIM#305620; Heterotopia, periventricular MIM#300049; Intestinal pseudoobstruction MIM#300048; Melnick-Needles syndrome MIM#309350; Otopalatodigital syndrome I MIM#311300; Otopalatodigital syndrome II MIM# 304120; Terminal osseous dysplasia MIM#300244\nReview for gene: FLNA was set to GREEN\nAdded comment: In a large Chinese cohort study two male patients with hemizygous FLNA missense mutations and spastic hemiplegic CP were identified. One additional patient in a cohort study of 52 patients with CP investigated for causative CNVs. This patient harbored a pathogenic maternally inherited triplication on Xq28 including FLNA. No information about the patient's gender is given.\r\nOne other cohort study (PMID 29706646) of patients with cortical malformations, which can be associated with CP overlapping features, also revealed one female patient with maternally inherited heterozygous FLNA mutation and ataxia. The mother had the same neuroradiologic features but did not show any symptoms. \nSources: Literature","entity_name":"FLNA","entity_type":"gene"},{"created":"2023-05-29T15:29:27.116497+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.36","user_name":"Luisa Weiss","item_type":"entity","text":"gene: FH was added\ngene: FH was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FH were set to 33528536; 27541980; 1432428\nPhenotypes for gene: FH were set to Fumarase deficiency MIM#606812\nReview for gene: FH was set to GREEN\nAdded comment: Two patients from a large CP cohort with biallelic (compound heterozygous) mutations in FH. Note that there is a recurrent mutation (NM_000143:c.1429_1430insAAA,p.K477delinsKK) which was already described in a compound heterozygous state in two sister with an attenuated form of fumarase deficiency and slowly progressive movement disorder (PMID:27541980).\r\nOne other case report of a girl with a previous diagnosis of cerebral palsy, nonprogressive \r\npsychomotor retardation, and hypotonia and reduced fibroblast activity of FH to 10% and parental fibroblast activity of FH in the heterozygote range. No genetic testing had been performed on this patient. \nSources: Literature","entity_name":"FH","entity_type":"gene"},{"created":"2023-05-29T15:06:52.100316+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.36","user_name":"Luisa Weiss","item_type":"entity","text":"changed review comment from: 3 individuals presenting with CP and harboring biallelic compound heterozygous mutations in ATM. At least one the individual had an overlapping phenotype of CP with Ataxia Teleangiectasia \nSources: Literature; to: 3 individuals presenting with CP and harboring biallelic compound heterozygous mutations in ATM. At least one of the individual had an overlapping phenotype of CP with Ataxia Teleangiectasia \r\nSources: Literature","entity_name":"ATM","entity_type":"gene"},{"created":"2023-05-29T15:03:38.118080+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.36","user_name":"Luisa Weiss","item_type":"entity","text":"gene: FARS2 was added\ngene: FARS2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FARS2 were set to 33528536; 32989326; 25851414\nPhenotypes for gene: FARS2 were set to Combined oxidative phosphorylation deficiency MIM#614946; 3 Spastic paraplegia MIM#617046\nReview for gene: FARS2 was set to GREEN\nAdded comment: Four patients out of three publications (two large CP cohort studies with one patient each, one case report of two sibling with the clinical diagnosis of CP) with biallelic mutations in FARS2. \nSources: Literature","entity_name":"FARS2","entity_type":"gene"},{"created":"2023-05-29T14:46:12.569374+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.36","user_name":"Luisa Weiss","item_type":"entity","text":"gene: FAR1 was added\ngene: FAR1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: FAR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FAR1 were set to 33239752\nPhenotypes for gene: FAR1 were set to Cataracts, spastic paraparesis, and speech delay MIM#619338\nMode of pathogenicity for gene: FAR1 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: FAR1 was set to GREEN\nAdded comment: One publication with a total of 12 patients with an amino acid change at position 480 (p.Arg480Cys/His/Leu) of FAR1 and movement disorder, epilepsy and cataract. The movement disorder was non-progressive in almost all of the individuals even though the clinical diagnosis of CP was not given. \r\nFunctional studies in the same publication showed that patients with the heterozygous de novo variants have elevated levels of ether lipids, including plasmalogens, which makes these mutations gain-of-function mutations (in contrast to the peroxisomal fatty acyl-CoA reductase 1 disorder, which is caused by biallelic loss-of-function mutations in the same gene). \nSources: Literature","entity_name":"FAR1","entity_type":"gene"},{"created":"2023-05-29T14:21:08.960239+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.36","user_name":"Luisa Weiss","item_type":"entity","text":"gene: EEF1A2 was added\ngene: EEF1A2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: EEF1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EEF1A2 were set to 33528536; 30109124; 32196822\nPhenotypes for gene: EEF1A2 were set to Developmental and epileptic encephalopathy MIM#616409\nReview for gene: EEF1A2 was set to AMBER\nAdded comment: One patient in a large CP cohort with heterozygous EEF1A2 mutation. In another publication there is one patient from a cohort of patients with EIEE and EEF1A2 mutations that was also reported to have CP. \r\nOne other paper (PMID:32196822) presents a cohort of patients with epileptic-dyskinetic encephalopathy due to heterozygous de novo EEIF1A2 mutations of which 4 had a non-progressive movement disorder without the clinical diagnosis of CP. \nSources: Literature","entity_name":"EEF1A2","entity_type":"gene"},{"created":"2023-05-29T12:38:40.980978+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.36","user_name":"Luisa Weiss","item_type":"entity","text":"changed review comment from: Nine patients in two different publications described as having biallelic ELP2 mutations and a form of ID syndrome with cerebral palsy as one neurological feature. At least for one patient symptom progression was described. \nSources: Literature; to: Nine patients in two different publications described as having biallelic ELP2 mutations and a form of ID syndrome with cerebral palsy as one neurological feature. For one patient symptom progression was described. \r\nSources: Literature","entity_name":"ELP2","entity_type":"gene"},{"created":"2023-05-29T12:38:10.965794+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.36","user_name":"Luisa Weiss","item_type":"entity","text":"changed review comment from: One large CP cohort study with 3 unrelated patients with biallelic mutations in ERCC8. Two were point mutations (one missense, one nonsense), the other a large deletion that included ERCC8 and NDUFAF2-gene. Another case report of a boy that was initially diagnosed as having CP but later re-diagnosed as having Cockayne syndrome due to biallelic ERCC8 mutations. \nSources: Literature; to: One large CP cohort study with 3 unrelated patients with biallelic mutations in ERCC8. Two were point mutations (one missense, one nonsense), the other a large deletion that included ERCC8 and NDUFAF2-gene. Another case report of a boy that was initially diagnosed as having CP but later re-diagnosed as having Cockayne syndrome due to biallelic ERCC8 mutations because of disease progression. \r\nSources: Literature","entity_name":"ERCC8","entity_type":"gene"},{"created":"2023-05-29T12:36:48.213082+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.36","user_name":"Luisa Weiss","item_type":"entity","text":"gene: FAM126A was added\ngene: FAM126A was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM126A were set to 34788679\nPhenotypes for gene: FAM126A were set to Leukodystrophy, hypomyelinating MIM#610532\nReview for gene: FAM126A was set to AMBER\nAdded comment: One large CP cohort study with one patient with a homozygous HYCC1/FAM126A mutation and CP \nSources: Literature","entity_name":"FAM126A","entity_type":"gene"},{"created":"2023-05-29T11:17:28.773495+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.36","user_name":"Luisa Weiss","item_type":"entity","text":"gene: EXOSC3 was added\ngene: EXOSC3 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXOSC3 were set to 33528536\nPhenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia MIM#614678\nReview for gene: EXOSC3 was set to GREEN\nAdded comment: One large CP cohort study with 3 unrelated patients harboring the same homozygous missense mutation (p.D132A). The same missense mutation has been described in a homozygous state as well as compound heterozygous with a different pathogenic mutation in the same gene as causing pontocerebellar hypoplasia. \nSources: Literature","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2023-05-29T11:11:21.360431+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.36","user_name":"Luisa Weiss","item_type":"entity","text":"gene: ERCC8 was added\ngene: ERCC8 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC8 were set to 33528536; 30279719\nPhenotypes for gene: ERCC8 were set to Cockayne syndrome MIM#216400\nReview for gene: ERCC8 was set to GREEN\nAdded comment: One large CP cohort study with 3 unrelated patients with biallelic mutations in ERCC8. Two were point mutations (one missense, one nonsense), the other a large deletion that included ERCC8 and NDUFAF2-gene. Another case report of a boy that was initially diagnosed as having CP but later re-diagnosed as having Cockayne syndrome due to biallelic ERCC8 mutations. \nSources: Literature","entity_name":"ERCC8","entity_type":"gene"},{"created":"2023-05-29T10:57:22.760842+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.36","user_name":"Luisa Weiss","item_type":"entity","text":"gene: ELP2 was added\ngene: ELP2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ELP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ELP2 were set to 25131622; 33976153\nPhenotypes for gene: ELP2 were set to Intellectual developmental disorder MIM#617270\nReview for gene: ELP2 was set to GREEN\nAdded comment: Nine patients in two different publications described as having biallelic ELP2 mutations and a form of ID syndrome with cerebral palsy as one neurological feature. At least for one patient symptom progression was described. \nSources: Literature","entity_name":"ELP2","entity_type":"gene"},{"created":"2023-05-29T10:38:14.477729+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.36","user_name":"Luisa Weiss","item_type":"entity","text":"gene: DYRK1A was added\ngene: DYRK1A was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DYRK1A were set to 33528536\nPhenotypes for gene: DYRK1A were set to Intellectual developmental disorder MIM#614104\nReview for gene: DYRK1A was set to GREEN\nAdded comment: 6 patients in one large CP cohort study described with mutations in DYRK1A. \nSources: Literature","entity_name":"DYRK1A","entity_type":"gene"},{"created":"2023-05-29T10:34:58.587788+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.36","user_name":"Luisa Weiss","item_type":"entity","text":"gene: DYNC1H1 was added\ngene: DYNC1H1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DYNC1H1 were set to 33528536; 25817843\nPhenotypes for gene: DYNC1H1 were set to Charcot-Marie-Tooth disease MIM#614228; Cortical dysplasia, complex MIM#614563; Spinal muscular atrophy, lower extremity-predominant MIM#158600\nReview for gene: DYNC1H1 was set to GREEN\nAdded comment: Four patients with de novo heterozygous missense mutations and one patient with a de novo gene deletion in DYNC1H1 in two independent CP cohort studies described. \nSources: Literature","entity_name":"DYNC1H1","entity_type":"gene"},{"created":"2023-05-29T10:23:05.417045+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.36","user_name":"Luisa Weiss","item_type":"entity","text":"gene: DOCK6 was added\ngene: DOCK6 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DOCK6 were set to 25824905; 34114234\nPhenotypes for gene: DOCK6 were set to Adams-Oliver syndrome 2 MIM#614219\nReview for gene: DOCK6 was set to GREEN\nAdded comment: In one study (PMID:25824905) ten patients with Adams-Oliver syndrome type 2 were described, 4 of which had CP. All of them had ocular anomalies and scalp defects, indicating that there is a high phenotypic overlap with the autosomal recessive form of Adams-Oliver-syndrome that is associated with eye anomalies.\r\nIn another CP cohort study (PMID: 34114234) one patient with biallelic variants of unknown clinical significance in DOCK6 was described, but there was no indication of eye or skin anomalies. \nSources: Literature","entity_name":"DOCK6","entity_type":"gene"},{"created":"2023-05-29T10:03:03.269460+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.36","user_name":"Luisa Weiss","item_type":"entity","text":"gene: CTNNA2 was added\ngene: CTNNA2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: CTNNA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTNNA2 were set to 30013181\nPhenotypes for gene: CTNNA2 were set to Cortical dysplasia, complex, with other brain malformations MIM#618174\nReview for gene: CTNNA2 was set to GREEN\nAdded comment: In 7 affected individuals of three consanguineous families a complex brain malformation syndrome with pachygyria, cortical gray matter thickening, hypogenesis of the corpus callosum, and cerebellar hypoplasia, neurodevelopmental delay, acquired microcephaly and seizures is described. All of the individuals are described as having hypotonic cerebral palsy and biallelic mutations in CTNNA2. \nSources: Literature","entity_name":"CTNNA2","entity_type":"gene"},{"created":"2023-05-29T09:50:06.313616+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.36","user_name":"Luisa Weiss","item_type":"entity","text":"gene: CTBP1 was added\ngene: CTBP1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: CTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CTBP1 were set to 33528536\nPhenotypes for gene: CTBP1 were set to Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome MIM#617915\nReview for gene: CTBP1 was set to AMBER\nAdded comment: Two independent patients in one large CP cohort studies with the same mutations in this gene (p.R342W), both heterozygous, one of them confirmed de novo. \r\n\r\nAnother recurrent, possibly dominant negative functioning mutation described as causing an ID syndrome with ataxia, hypotonia and tooth enamel defects. Since there is no phenotype given in the CP cohort study, a possible phenotypic overlap cannot be ruled out. \nSources: Literature","entity_name":"CTBP1","entity_type":"gene"},{"created":"2023-05-29T09:36:27.289799+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.36","user_name":"Luisa Weiss","item_type":"entity","text":"gene: CREBBP was added\ngene: CREBBP was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CREBBP were set to 33528536; 34788679\nPhenotypes for gene: CREBBP were set to Menke-Hennekam syndrome MIM#618332, Rubinstein-Taybi syndrome MIM#180849\nReview for gene: CREBBP was set to GREEN\nAdded comment: 3 independent patients in 2 large CP cohort studies describes as having heterozygous de novo mutations in this gene. One mutation (PMID: 34788679) is a frameshift mutation, the two other mutations (PMID: 33528536) are missense mutations, one of which (p.M1872V) was already described twice in patients with Menke-Hennekam syndrome. Possible phenotypic overlap with ID syndrome. \nSources: Literature","entity_name":"CREBBP","entity_type":"gene"},{"created":"2023-05-28T17:44:43.795718+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TPR were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, TPR-related to Intellectual developmental disorder, autosomal recessive 79, MIM# 620393","entity_name":"TPR","entity_type":"gene"},{"created":"2023-05-28T17:44:25.840590+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TPR: Changed phenotypes: Intellectual developmental disorder, autosomal recessive 79, MIM# 620393","entity_name":"TPR","entity_type":"gene"},{"created":"2023-05-28T17:44:10.636810+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5230","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TPR were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, TPR-related to Intellectual developmental disorder, autosomal recessive 79, MIM# 620393","entity_name":"TPR","entity_type":"gene"},{"created":"2023-05-28T17:43:38.190596+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5229","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TPR: Changed phenotypes: Intellectual developmental disorder, autosomal recessive 79, MIM# 620393","entity_name":"TPR","entity_type":"gene"},{"created":"2023-05-28T17:43:24.697551+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.205","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TPR were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, TPR-related to Intellectual developmental disorder, autosomal recessive 79, MIM# 620393","entity_name":"TPR","entity_type":"gene"},{"created":"2023-05-28T17:42:55.725182+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.204","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TPR: Changed phenotypes: Intellectual developmental disorder, autosomal recessive 79, MIM# 620393","entity_name":"TPR","entity_type":"gene"},{"created":"2023-05-28T17:42:35.864270+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.895","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TPR were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, TPR-related to Intellectual developmental disorder, autosomal recessive 79, MIM# 620393","entity_name":"TPR","entity_type":"gene"},{"created":"2023-05-28T17:41:58.503994+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.894","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TPR: Changed phenotypes: Intellectual developmental disorder, autosomal recessive 79, MIM# 620393","entity_name":"TPR","entity_type":"gene"},{"created":"2023-05-27T12:51:48.612118+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.894","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AMFR as ready","entity_name":"AMFR","entity_type":"gene"},{"created":"2023-05-27T12:51:48.601345+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.894","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: amfr has been classified as Green List (High Evidence).","entity_name":"AMFR","entity_type":"gene"},{"created":"2023-05-27T12:51:40.524518+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.894","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AMFR were changed from Hereditary spastic paraplegia, MONDO:0019064 to Spastic paraplegia 89, autosomal recessive, MIM# 620379","entity_name":"AMFR","entity_type":"gene"},{"created":"2023-05-27T12:51:15.693159+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.893","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AMFR as Green List (high evidence)","entity_name":"AMFR","entity_type":"gene"},{"created":"2023-05-27T12:51:15.684916+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.893","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: amfr has been classified as Green List (High Evidence).","entity_name":"AMFR","entity_type":"gene"},{"created":"2023-05-27T12:50:58.288682+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.892","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AMFR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 89, autosomal recessive, MIM# 620379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AMFR","entity_type":"gene"},{"created":"2023-05-27T12:50:40.491324+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.63","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AMFR as ready","entity_name":"AMFR","entity_type":"gene"},{"created":"2023-05-27T12:50:40.482640+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.63","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: amfr has been classified as Green List (High Evidence).","entity_name":"AMFR","entity_type":"gene"},{"created":"2023-05-27T12:50:38.063499+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.63","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AMFR were changed from Hereditary spastic paraplegia, MONDO:0019064 to Spastic paraplegia 89, autosomal recessive, MIM# 620379","entity_name":"AMFR","entity_type":"gene"},{"created":"2023-05-27T12:50:20.682115+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.62","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AMFR as Green List (high evidence)","entity_name":"AMFR","entity_type":"gene"},{"created":"2023-05-27T12:50:20.671335+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.62","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: amfr has been classified as Green List (High Evidence).","entity_name":"AMFR","entity_type":"gene"},{"created":"2023-05-27T12:50:05.176875+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.61","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AMFR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 89, autosomal recessive, MIM# 620379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AMFR","entity_type":"gene"},{"created":"2023-05-26T10:31:18.658211+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.892","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATP11A as Green List (high evidence)","entity_name":"ATP11A","entity_type":"gene"},{"created":"2023-05-26T10:31:18.650187+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.892","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp11a has been classified as Green List (High Evidence).","entity_name":"ATP11A","entity_type":"gene"},{"created":"2023-05-26T10:30:59.009250+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.891","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ATP11A: Added comment: PMID 35278131 reports three additional families with deafness, including segregation in a large pedigree.; Changed rating: GREEN; Changed publications: 35278131","entity_name":"ATP11A","entity_type":"gene"},{"created":"2023-05-25T09:27:48.299130+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.298","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:36980822; Phenotypes: ?; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RASA1","entity_type":"gene"},{"created":"2023-05-23T17:01:18.337502+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.149","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176821; Phenotypes: Spastic paraplegia 56, autosomal recessive, MIM#615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYP2U1","entity_type":"gene"},{"created":"2023-05-23T16:22:44.941000+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.149","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: CTDP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301787; Phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy (MIM#604168); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CTDP1","entity_type":"gene"},{"created":"2023-05-23T15:55:44.731519+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.149","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: COX10: Rating: AMBER; Mode of pathogenicity: None; Publications: 10767350; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 3 (MIM#619046); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COX10","entity_type":"gene"},{"created":"2023-05-23T15:29:23.119233+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.149","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29511323, 27881385; Phenotypes: Hypomyelinating neuropathy, congenital, 3 (MONDO:0017049, MIM#618186); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CNTNAP1","entity_type":"gene"},{"created":"2023-05-23T13:51:11.467238+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.149","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: BAG3: Rating: AMBER; Mode of pathogenicity: None; Publications: 19085932; Phenotypes: Myopathy, myofibrillar, 6 (MIM#612954, MONDO:0013061); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BAG3","entity_type":"gene"},{"created":"2023-05-23T12:08:56.204131+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.36","user_name":"Luisa Weiss","item_type":"entity","text":"reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33528536, 34531397; Phenotypes: Brain small vessel disease MIM#614483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"COL4A1","entity_type":"gene"},{"created":"2023-05-23T12:08:55.971399+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.149","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"edited their review of gene: B4GALNT1: Changed rating: AMBER","entity_name":"B4GALNT1","entity_type":"gene"},{"created":"2023-05-23T11:46:22.978792+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.36","user_name":"Luisa Weiss","item_type":"entity","text":"gene: CLTC was added\ngene: CLTC was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: CLTC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CLTC were set to 33528536; 31776469\nPhenotypes for gene: CLTC were set to Intellectual developmental disorder MIM#617854\nReview for gene: CLTC was set to GREEN\nAdded comment: One large CP cohort study with one patient reported. \r\n\r\nOne more publication with 13 cases of syndromic ID due to heterozygous CLTC mutations. Cerebral palsy affecting gait recurrently seen in these individuals. \nSources: Literature","entity_name":"CLTC","entity_type":"gene"},{"created":"2023-05-23T11:43:36.278578+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.149","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"changed review comment from: Variable age of onset (typically during juvenile aged). Mutations in B4GALNT1 are known to be a rarer and more complicated form of SPG compared to other genes.  (PMID: 20301682)\r\n\r\nPMID: 23746551\r\n5 unrelated families with gait abnormalities due to lower limb spasticity, hyperreflexia, extensor plantar responses, muscle weakness and atrophy, and mild to moderate intellectual disability. \r\nAll affected individuals in the families had homozygous mutations in B4GALNT1; to: Neuropathy is not a prominent feature in individuals \r\n\r\nVariable age of onset (typically during juvenile aged). Mutations in B4GALNT1 are known to be a rarer and more complicated form of SPG compared to other genes.  (PMID: 20301682)\r\n\r\nPMID: 23746551\r\n5 unrelated families with gait abnormalities due to lower limb spasticity, hyperreflexia, extensor plantar responses, muscle weakness and atrophy, and mild to moderate intellectual disability. \r\nAll affected individuals in the families had homozygous mutations in B4GALNT1","entity_name":"B4GALNT1","entity_type":"gene"},{"created":"2023-05-23T11:43:11.575887+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.149","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"edited their review of gene: B4GALNT1: Changed rating: RED","entity_name":"B4GALNT1","entity_type":"gene"},{"created":"2023-05-23T11:30:49.954680+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.36","user_name":"Luisa Weiss","item_type":"entity","text":"gene: CLCN4 was added\ngene: CLCN4 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: CLCN4 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: CLCN4 were set to 34788679\nPhenotypes for gene: CLCN4 were set to Raynaud-Claes syndrome MIM#300114\nReview for gene: CLCN4 was set to AMBER\nAdded comment: One female patient presented in a large cohort study with phenotypic overlap to Raynaud-Claes syndrome (ID, epilepsy and language deficits). The mutation is a heterozygous missense mutation previously reported to cause Raynaud-Claes syndrome. \nSources: Literature","entity_name":"CLCN4","entity_type":"gene"},{"created":"2023-05-23T11:28:50.926220+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.149","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301682, 23746551; Phenotypes: Spastic paraplegia 26, autosomal recessive (MIM#609195, MONDO:0012213); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"B4GALNT1","entity_type":"gene"},{"created":"2023-05-23T11:14:17.568509+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.36","user_name":"Luisa Weiss","item_type":"entity","text":"gene: ATP7B was added\ngene: ATP7B was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP7B were set to 34788679\nPhenotypes for gene: ATP7B were set to Wilson disease MIM#277900\nReview for gene: ATP7B was set to RED\nAdded comment: One reported case in a large CP cohort study with two mutations in ATP7B, however bi-parental inheritance was not confirmed. Low evidence for causality. \nSources: Literature","entity_name":"ATP7B","entity_type":"gene"},{"created":"2023-05-23T10:57:53.306777+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.36","user_name":"Luisa Weiss","item_type":"entity","text":"gene: CHD8 was added\ngene: CHD8 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: CHD8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHD8 were set to 33528536\nPhenotypes for gene: CHD8 were set to Intellectual developmental disorder with autism and macrocephaly #615032\nReview for gene: CHD8 was set to GREEN\nAdded comment: 3 individual cases in one large cohort study, two de novo missense mutations and one frameshift mutation with unknown inheritance. \nSources: Literature","entity_name":"CHD8","entity_type":"gene"},{"created":"2023-05-23T10:53:10.833264+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.36","user_name":"Luisa Weiss","item_type":"entity","text":"gene: CDKL5 was added\ngene: CDKL5 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: CDKL5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: CDKL5 were set to 33528536; 34788679\nReview for gene: CDKL5 was set to AMBER\nAdded comment: 2 individual cases in two independent large cohort studies. One mutation reported as a mosaic nonsense mutation, the other one reported as a de novo hemizygous frameshift mutation. No phenotype information given. \nSources: Literature","entity_name":"CDKL5","entity_type":"gene"}]}