{"count":221416,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=435","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=433","results":[{"created":"2024-06-19T14:21:33.355477+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.0","user_name":"Thomas Scerri","item_type":"entity","text":"edited their review of gene: CHD3: Added comment: ID/DD, macrocephaly, prominent forehead, hypertelorism, hypotonia, joint laxity, severity of neurologic deficits & presence of non-neurologic features are variable. Autistic features are commonly reported. AT Morgan et al. (2024).; Changed phenotypes: Childhood apraxia of speech, see comments.","entity_name":"CHD3","entity_type":"gene"},{"created":"2024-06-19T14:20:06.400618+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.0","user_name":"Thomas Scerri","item_type":"entity","text":"edited their review of gene: FOXP2: Added comment: Cognition ranges from average to mild ID, feeding difficulties in infancy, fine & gross motor impairment, ASD, language impairment, anxiety, depression, sleep disturbance. AT Morgan et al., (2024).; Changed phenotypes: Childhood apraxia of speech, see comments.","entity_name":"FOXP2","entity_type":"gene"},{"created":"2024-06-19T14:04:55.342087+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.291","user_name":"Clare van Eyk","item_type":"entity","text":"reviewed gene: MOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Molybdenum cofactor deficiency A MIM#252150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MOCS1","entity_type":"gene"},{"created":"2024-06-19T13:49:25.660251+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.291","user_name":"Clare van Eyk","item_type":"entity","text":"gene: MMACHC was added\ngene: MMACHC was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMACHC were set to PMID: 38693247\nPhenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400\nReview for gene: MMACHC was set to AMBER\nAdded comment: 3 individuals reported with biallelic LOF variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Variable age at onset with frequent neurological and cardiovascular sequelae. \nSources: Literature","entity_name":"MMACHC","entity_type":"gene"},{"created":"2024-06-19T13:10:34.190305+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.291","user_name":"Clare van Eyk","item_type":"entity","text":"gene: MCCC2 was added\ngene: MCCC2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCCC2 were set to PMID: 38693247\nPhenotypes for gene: MCCC2 were set to 3-Methylcrotonyl-CoA carboxylase 2 deficiency, MIM#210210\nReview for gene: MCCC2 was set to AMBER\nAdded comment: 1 individual reported with homozygous likely pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. MCC2D is an autosomal recessive disorder of leucine catabolism. Highly variable clinical phenotype ranging from neonatal onset with severe neurologic involvement to asymptomatic adults.  Additional individuals with a clinical diagnosis of CP or overlapping clinical presentation can be found in the literature (e.g. PMID: 9187484, PMID: 10485305) \nSources: Literature","entity_name":"MCCC2","entity_type":"gene"},{"created":"2024-06-19T12:49:10.536529+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.291","user_name":"Clare van Eyk","item_type":"entity","text":"gene: LZTR1 was added\ngene: LZTR1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: LZTR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LZTR1 were set to PMID: 38693247\nPhenotypes for gene: LZTR1 were set to Noonan syndrome 2, MIM#605275\nReview for gene: LZTR1 was set to RED\nAdded comment: 1 individual reported with homozygous pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. \nSources: Literature","entity_name":"LZTR1","entity_type":"gene"},{"created":"2024-06-19T12:15:20.349556+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.291","user_name":"Clare van Eyk","item_type":"entity","text":"gene: LRP2 was added\ngene: LRP2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRP2 were set to PMID: 38693247\nPhenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, MIM#222448\nReview for gene: LRP2 was set to RED\nAdded comment: 1 individual reported with compound heterozygous predicted LOF variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. DBS is associated with multiple congenital anomalies. \nSources: Literature","entity_name":"LRP2","entity_type":"gene"},{"created":"2024-06-19T11:59:03.963914+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.291","user_name":"Clare van Eyk","item_type":"entity","text":"gene: LAMA1 was added\ngene: LAMA1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LAMA1 were set to PMID: 38693247\nPhenotypes for gene: LAMA1 were set to Poretti-Boltshauser syndrome, MIM#615960\nReview for gene: LAMA1 was set to RED\nAdded comment: 1 individual reported with biallelic pathogenic LOF variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Cerebellar cysts and periventricular white matter abnormalities are common imaging findings in Poretti-Boltshauser syndrome. \nSources: Literature","entity_name":"LAMA1","entity_type":"gene"},{"created":"2024-06-19T00:47:55.554173+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1840","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"reviewed gene: THRB: Rating: AMBER; Mode of pathogenicity: None; Publications: 37547476; Phenotypes: inherited retinal dystrophy, MONDO:0019118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"THRB","entity_type":"gene"},{"created":"2024-06-18T23:21:01.399893+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1840","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"changed review comment from: PMID:38863195 reported three unrelated cases with biallelic SUMF1 variants and retinal dystrophy. One of them was a paediatric patient with an attenuated phenotype, while the other two are adult patients with non-syndromic retinal dystrophy.; to: PMID:38863195 reported three unrelated cases with biallelic SUMF1 variants and retinal dystrophy. One of them was a paediatric patient with an attenuated phenotype, while the other two are adult patients with non-syndromic retinal dystrophy.\r\n\r\nRetinal dystrophy is part of the multiple sulfatase deficiency phenotype (MIM #272200) typically associated with biallelic variants in SUMF1, and these cases show that presumed hypomorphic variants in SUMF1 may also be associated with non-syndromic retinal dystrophy.","entity_name":"SUMF1","entity_type":"gene"},{"created":"2024-06-18T23:19:47.161402+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1840","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"reviewed gene: SUMF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38863195; Phenotypes: inherited retinal dystrophy, MONDO:0019118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SUMF1","entity_type":"gene"},{"created":"2024-06-18T18:17:23.376626+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.0","user_name":"Thomas Scerri","item_type":"entity","text":"edited their review of gene: CHD3: Changed phenotypes: Childhood apraxia of speech","entity_name":"CHD3","entity_type":"gene"},{"created":"2024-06-18T18:16:04.658508+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.0","user_name":"Thomas Scerri","item_type":"entity","text":"gene: CHD3 was added\ngene: CHD3 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHD3 were set to PMID: 30397230; 38366112; 35346573\nPenetrance for gene: CHD3 were set to Complete\nReview for gene: CHD3 was set to GREEN\nAdded comment: Variant p.Leu915Phe yielded increased activity (PMID: 30397230).\r\nEvidence of reduced penetrance and variable expressivity (PMID: 35346573). \nSources: Expert list, Expert Review","entity_name":"CHD3","entity_type":"gene"},{"created":"2024-06-18T17:15:36.548914+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.0","user_name":"Thomas Scerri","item_type":"entity","text":"gene: FOXP2 was added\ngene: FOXP2 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: FOXP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXP2 were set to PMID: 11586359; 36328423; 38366112\nPhenotypes for gene: FOXP2 were set to Childhood apraxia of speech\nPenetrance for gene: FOXP2 were set to Complete\nReview for gene: FOXP2 was set to GREEN\nAdded comment: Sources: Expert list, Expert Review","entity_name":"FOXP2","entity_type":"gene"},{"created":"2024-06-18T15:59:20.086886+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1840","user_name":"Melanie Marty","item_type":"entity","text":"changed review comment from: > 17 individuals with Craniosynostosis from 14 families had been found to have rare heterozygous variants in PRRX1, loss of function variants (PTCs, start loss and partial/full gene del)  or missense variants affecting the homeodomain.\r\n> These consisted of three de novo variants, but for the majority of cases the variant was inherited from an unaffected parent, yielding an estimate for the penetrance of craniosynostosis of 12.5%. \r\n> These results were also supported by immunofluorescence analyses which showed that missense variants within the PRRX1 homeodomain cause abnormal nuclear localisation (PMID: 37154149)\r\n> Authors discuss how the previous reports of agnathia-otocephaly doesn't fit with this new evidence and they showed that a missense variant previously reported in a patient with agnathia-otocephaly p.(Phe113Leu) did not affect nuclear import.\r\n\r\nSupporting evidence:\r\n> Post-natal calvarial stem cells expressing Prrx1 have been shown to reside exclusively in the calvarial suture niche, suggesting a requirement for PRRX1 regarding suture patency during early development (PMID: 28366454)\r\n\r\n>Prrx1 has been shown to be widely expressed within the mouse coronal suture (PMID: 34376651)\r\n\r\n>Agnathia-otocephaly complex, 2 x missense variants (1 x het, 1 x hom) and 2 x frameshifts reported (het). The frameshift variants both occur in a poly A tract (PMID: 21294718, PMID: 22674740, PMID: 23444262, PMID: 22211708). Authors of the more recent publication on Craniosynostosis (PMID: 37154149) cast some doubt on the reports for Agnathia-otocephaly, possible explanations discussed are that this condition is AR and a 2nd hit was missed or another cause was not identified such as variants in OTX2.\r\n\r\n> PMID: 7758948 generated a loss-of-function mutation in the mouse Pmx1 gene. Mice homozygous for the mutant allele died soon after birth and exhibited defects of skeletogenesis, which involved the loss or malformation of craniofacial, limb, and vertebral skeletal structures. ; to: Craniosynostosis (MONDO:0015469), PRRX1-related\r\n> 17 individuals with Craniosynostosis from 14 families had been found to have rare heterozygous variants in PRRX1, loss of function variants (PTCs, start loss and partial/full gene del)  or missense variants affecting the homeodomain.\r\n> These consisted of three de novo variants, but for the majority of cases the variant was inherited from an unaffected parent, yielding an estimate for the penetrance of craniosynostosis of 12.5%. \r\n> These results were also supported by immunofluorescence analyses which showed that missense variants within the PRRX1 homeodomain cause abnormal nuclear localisation (PMID: 37154149)\r\n> Authors discuss how the previous reports of agnathia-otocephaly doesn't fit with this new evidence and they showed that a missense variant previously reported in a patient with agnathia-otocephaly p.(Phe113Leu) did not affect nuclear import.\r\n\r\nSupporting evidence:\r\n> Post-natal calvarial stem cells expressing Prrx1 have been shown to reside exclusively in the calvarial suture niche, suggesting a requirement for PRRX1 regarding suture patency during early development (PMID: 28366454)\r\n\r\n>Prrx1 has been shown to be widely expressed within the mouse coronal suture (PMID: 34376651)\r\n\r\nAgnathia-otocephaly complex, MIM# 202650\r\n>Agnathia-otocephaly complex, 2 x missense variants (1 x het, 1 x hom) and 2 x frameshifts reported (het). The frameshift variants both occur in a poly A tract (PMID: 21294718, PMID: 22674740, PMID: 23444262, PMID: 22211708). Authors of the more recent publication on Craniosynostosis (PMID: 37154149) cast some doubt on the reports for Agnathia-otocephaly, possible explanations discussed are that this condition is AR and a 2nd hit was missed or another cause was not identified such as variants in OTX2.\r\n\r\n> PMID: 7758948 generated a loss-of-function mutation in the mouse Pmx1 gene. Mice homozygous for the mutant allele died soon after birth and exhibited defects of skeletogenesis, which involved the loss or malformation of craniofacial, limb, and vertebral skeletal structures. ","entity_name":"PRRX1","entity_type":"gene"},{"created":"2024-06-18T15:40:23.172214+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1840","user_name":"Melanie Marty","item_type":"entity","text":"changed review comment from: > 17 individuals with Craniosynostosis from 14 families had been found to have rare heterozygous variants in PRRX1, loss of function variants (PTCs, start loss and partial/full gene del)  or missense variants affecting the homeodomain.\r\n> These consisted of three de novo variants, but for the majority of cases the variant was inherited from an unaffected parent, yielding an estimate for the penetrance of craniosynostosis of 12.5%. \r\n> These results were also supported by immunofluorescence analyses which showed that missense variants within the PRRX1 homeodomain cause abnormal nuclear localisation (PMID: 37154149)\r\n> Authors discuss how the previous reports of agnathia-otocephaly doesn't fit with this new evidence and they showed that a missense variant previously reported in a patient with agnathia-otocephaly p.(Phe113Leu) did not affect nuclear import.\r\n\r\nSupporting evidence:\r\n> Post-natal calvarial stem cells expressing Prrx1 have been shown to reside exclusively in the calvarial suture niche, suggesting a requirement for PRRX1 regarding suture patency during early development (PMID: 28366454)\r\n\r\n>Prrx1 has been shown to be widely expressed within the mouse coronal suture (PMID: 34376651)\r\n\r\n>Agnathia-otocephaly complex, 2 x missense variants (1 x het, 1 x hom) and 2 x frameshifts reported (het). The frameshift variants both occur in a poly A tract (PMID: 21294718, PMID: 22674740, PMID: 23444262, PMID: 22211708). Authors of the more recent publication on Craniosynostosis (PMID: 37154149) cast some doubt on the reports for Agnathia-otocephaly, possible explanations discussed are that this condition is AR and a 2nd hit was missed or another cause was not identified such as variants in OTX2.; to: > 17 individuals with Craniosynostosis from 14 families had been found to have rare heterozygous variants in PRRX1, loss of function variants (PTCs, start loss and partial/full gene del)  or missense variants affecting the homeodomain.\r\n> These consisted of three de novo variants, but for the majority of cases the variant was inherited from an unaffected parent, yielding an estimate for the penetrance of craniosynostosis of 12.5%. \r\n> These results were also supported by immunofluorescence analyses which showed that missense variants within the PRRX1 homeodomain cause abnormal nuclear localisation (PMID: 37154149)\r\n> Authors discuss how the previous reports of agnathia-otocephaly doesn't fit with this new evidence and they showed that a missense variant previously reported in a patient with agnathia-otocephaly p.(Phe113Leu) did not affect nuclear import.\r\n\r\nSupporting evidence:\r\n> Post-natal calvarial stem cells expressing Prrx1 have been shown to reside exclusively in the calvarial suture niche, suggesting a requirement for PRRX1 regarding suture patency during early development (PMID: 28366454)\r\n\r\n>Prrx1 has been shown to be widely expressed within the mouse coronal suture (PMID: 34376651)\r\n\r\n>Agnathia-otocephaly complex, 2 x missense variants (1 x het, 1 x hom) and 2 x frameshifts reported (het). The frameshift variants both occur in a poly A tract (PMID: 21294718, PMID: 22674740, PMID: 23444262, PMID: 22211708). Authors of the more recent publication on Craniosynostosis (PMID: 37154149) cast some doubt on the reports for Agnathia-otocephaly, possible explanations discussed are that this condition is AR and a 2nd hit was missed or another cause was not identified such as variants in OTX2.\r\n\r\n> PMID: 7758948 generated a loss-of-function mutation in the mouse Pmx1 gene. Mice homozygous for the mutant allele died soon after birth and exhibited defects of skeletogenesis, which involved the loss or malformation of craniofacial, limb, and vertebral skeletal structures. ","entity_name":"PRRX1","entity_type":"gene"},{"created":"2024-06-18T15:28:10.449912+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1840","user_name":"Melanie Marty","item_type":"entity","text":"changed review comment from: > 17 individuals with Craniosynostosis from 14 families had been found to have rare heterozygous variants in PRRX1, loss of function variants (PTCs, start loss and partial/full gene del)  or missense variants affecting the homeodomain.\r\n> These consisted of three de novo variants, but for the majority of cases the variant was inherited from an unaffected parent, yielding an estimate for the penetrance of craniosynostosis of 12.5%. \r\n> These results were also supported by immunofluorescence analyses which showed that missense variants within the PRRX1 homeodomain cause abnormal nuclear localisation (PMID: 37154149)\r\n> Authors discuss how the previous reports of agnathia-otocephaly doesn't fit with this new evidence and they showed that a missense variant previously reported in a patient with agnathia-otocephaly p.(Phe113Leu) did not affect nuclear import.\r\n\r\nSupporting evidence:\r\n> Post-natal calvarial stem cells expressing Prrx1 have been shown to reside exclusively in the calvarial suture niche, suggesting a requirement for PRRX1 regarding suture patency during early development (PMID: 28366454)\r\n\r\n>Prrx1 has been shown to be widely expressed within the mouse coronal suture (PMID: 34376651)\r\n\r\n>Agnathia-otocephaly complex, 2 x missense variants (1 x het, 1 x hom) and 2 x frameshifts reported (het). The frameshift variants both occur in a poly A tract (PMID: 21294718, PMID: 22674740, PMID: 23444262, PMID: 22211708).; to: > 17 individuals with Craniosynostosis from 14 families had been found to have rare heterozygous variants in PRRX1, loss of function variants (PTCs, start loss and partial/full gene del)  or missense variants affecting the homeodomain.\r\n> These consisted of three de novo variants, but for the majority of cases the variant was inherited from an unaffected parent, yielding an estimate for the penetrance of craniosynostosis of 12.5%. \r\n> These results were also supported by immunofluorescence analyses which showed that missense variants within the PRRX1 homeodomain cause abnormal nuclear localisation (PMID: 37154149)\r\n> Authors discuss how the previous reports of agnathia-otocephaly doesn't fit with this new evidence and they showed that a missense variant previously reported in a patient with agnathia-otocephaly p.(Phe113Leu) did not affect nuclear import.\r\n\r\nSupporting evidence:\r\n> Post-natal calvarial stem cells expressing Prrx1 have been shown to reside exclusively in the calvarial suture niche, suggesting a requirement for PRRX1 regarding suture patency during early development (PMID: 28366454)\r\n\r\n>Prrx1 has been shown to be widely expressed within the mouse coronal suture (PMID: 34376651)\r\n\r\n>Agnathia-otocephaly complex, 2 x missense variants (1 x het, 1 x hom) and 2 x frameshifts reported (het). The frameshift variants both occur in a poly A tract (PMID: 21294718, PMID: 22674740, PMID: 23444262, PMID: 22211708). Authors of the more recent publication on Craniosynostosis (PMID: 37154149) cast some doubt on the reports for Agnathia-otocephaly, possible explanations discussed are that this condition is AR and a 2nd hit was missed or another cause was not identified such as variants in OTX2.","entity_name":"PRRX1","entity_type":"gene"},{"created":"2024-06-18T15:17:10.252606+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1840","user_name":"Melanie Marty","item_type":"entity","text":"changed review comment from: > 17 individuals with Craniosynostosis from 14 families had been found to have rare heterozygous variants in PRRX1, loss of function variants (PTCs, start loss and partial/full gene del)  or missense variants affecting the homeodomain.\r\n> These consisted of three de novo variants, but for the majority of cases the variant was inherited from an unaffected parent, yielding an estimate for the penetrance of craniosynostosis of 12.5%. \r\n> These results were also supported by immunofluorescence analyses which showed that missense variants within the PRRX1 homeodomain cause abnormal nuclear localisation (PMID: 37154149)\r\n> Authors discuss how the previous reports of agnathia-otocephaly doen't fit with this new evidence and they showed that a missense variant previously reported in a patient with agnathia-otocephaly p.(Phe113Leu) did not affect nuclear import.\r\n\r\nSupporting evidence:\r\n> Post-natal calvarial stem cells expressing Prrx1 have been shown to reside exclusively in the calvarial suture niche, suggesting a requirement for PRRX1 regarding suture patency during early development (PMID: 28366454)\r\n\r\n>Prrx1 has been shown to be widely expressed within the mouse coronal suture (PMID: 34376651)\r\n\r\n>Agnathia-otocephaly complex, 2 x missense variants (1 x het, 1 x hom) and 2 x frameshifts reported (het). The frameshift variants both occur in a poly A tract (PMID: 21294718, PMID: 22674740, PMID: 23444262, PMID: 22211708).; to: > 17 individuals with Craniosynostosis from 14 families had been found to have rare heterozygous variants in PRRX1, loss of function variants (PTCs, start loss and partial/full gene del)  or missense variants affecting the homeodomain.\r\n> These consisted of three de novo variants, but for the majority of cases the variant was inherited from an unaffected parent, yielding an estimate for the penetrance of craniosynostosis of 12.5%. \r\n> These results were also supported by immunofluorescence analyses which showed that missense variants within the PRRX1 homeodomain cause abnormal nuclear localisation (PMID: 37154149)\r\n> Authors discuss how the previous reports of agnathia-otocephaly doesn't fit with this new evidence and they showed that a missense variant previously reported in a patient with agnathia-otocephaly p.(Phe113Leu) did not affect nuclear import.\r\n\r\nSupporting evidence:\r\n> Post-natal calvarial stem cells expressing Prrx1 have been shown to reside exclusively in the calvarial suture niche, suggesting a requirement for PRRX1 regarding suture patency during early development (PMID: 28366454)\r\n\r\n>Prrx1 has been shown to be widely expressed within the mouse coronal suture (PMID: 34376651)\r\n\r\n>Agnathia-otocephaly complex, 2 x missense variants (1 x het, 1 x hom) and 2 x frameshifts reported (het). The frameshift variants both occur in a poly A tract (PMID: 21294718, PMID: 22674740, PMID: 23444262, PMID: 22211708).","entity_name":"PRRX1","entity_type":"gene"},{"created":"2024-06-18T15:16:40.122880+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1840","user_name":"Melanie Marty","item_type":"entity","text":"changed review comment from: > 17 individuals with Craniosynostosis from 14 families had been found to have rare heterozygous variants in PRRX1, loss of function variants (PTCs, start loss and partial/full gene del)  or missense variants affecting the homeodomain.\r\n> These consisted of three de novo variants, but for the majority of cases the variant was inherited from an unaffected parent, yielding an estimate for the penetrance of craniosynostosis of 12.5%. \r\n> These results were also supported by immunofluorescence analyses which showed that missense variants within the PRRX1 homeodomain cause abnormal nuclear localisation (PMID: 37154149)\r\n> Authors discuss how the previous reports of agnathia-otocephaly don't fit with this new evidence and they showed that a missense variant previously reported in a patient with agnathia-otocephaly p.(Phe113Leu) did not affect nuclear import.\r\n\r\n\r\nSupporting evidence:\r\n> Post-natal calvarial stem cells expressing Prrx1 have been shown to reside exclusively in the calvarial suture niche, suggesting a requirement for PRRX1 regarding suture patency during early development (PMID: 28366454)\r\n\r\n>Prrx1 has been shown to be widely expressed within the mouse coronal suture (PMID: 34376651); to: > 17 individuals with Craniosynostosis from 14 families had been found to have rare heterozygous variants in PRRX1, loss of function variants (PTCs, start loss and partial/full gene del)  or missense variants affecting the homeodomain.\r\n> These consisted of three de novo variants, but for the majority of cases the variant was inherited from an unaffected parent, yielding an estimate for the penetrance of craniosynostosis of 12.5%. \r\n> These results were also supported by immunofluorescence analyses which showed that missense variants within the PRRX1 homeodomain cause abnormal nuclear localisation (PMID: 37154149)\r\n> Authors discuss how the previous reports of agnathia-otocephaly doen't fit with this new evidence and they showed that a missense variant previously reported in a patient with agnathia-otocephaly p.(Phe113Leu) did not affect nuclear import.\r\n\r\nSupporting evidence:\r\n> Post-natal calvarial stem cells expressing Prrx1 have been shown to reside exclusively in the calvarial suture niche, suggesting a requirement for PRRX1 regarding suture patency during early development (PMID: 28366454)\r\n\r\n>Prrx1 has been shown to be widely expressed within the mouse coronal suture (PMID: 34376651)\r\n\r\n>Agnathia-otocephaly complex, 2 x missense variants (1 x het, 1 x hom) and 2 x frameshifts reported (het). The frameshift variants both occur in a poly A tract (PMID: 21294718, PMID: 22674740, PMID: 23444262, PMID: 22211708).","entity_name":"PRRX1","entity_type":"gene"},{"created":"2024-06-18T15:10:49.769789+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1840","user_name":"Melanie Marty","item_type":"entity","text":"changed review comment from: > 17 individuals with Craniosynostosis from 14 families had been found to have rare heterozygous variants in PRRX1, loss of function variants (PTCs, start loss and partial/full gene del)  or missense variants affecting the homeodomain.\r\n> These consisted of three de novo variants, but for the majority of cases the variant was inherited from an unaffected parent, yielding an estimate for the penetrance of craniosynostosis of 12.5%. \r\n> These results were also supported by immunofluorescence analyses which showed that missense variants within the PRRX1 homeodomain cause abnormal nuclear localisation (PMID: 37154149)\r\n\r\nSupporting evidence:\r\n> Post-natal calvarial stem cells expressing Prrx1 have been shown to reside exclusively in the calvarial suture niche, suggesting a requirement for PRRX1 regarding suture patency during early development (PMID: 28366454)\r\n\r\n>Prrx1 has been shown to be widely expressed within the mouse coronal suture (PMID: 34376651); to: > 17 individuals with Craniosynostosis from 14 families had been found to have rare heterozygous variants in PRRX1, loss of function variants (PTCs, start loss and partial/full gene del)  or missense variants affecting the homeodomain.\r\n> These consisted of three de novo variants, but for the majority of cases the variant was inherited from an unaffected parent, yielding an estimate for the penetrance of craniosynostosis of 12.5%. \r\n> These results were also supported by immunofluorescence analyses which showed that missense variants within the PRRX1 homeodomain cause abnormal nuclear localisation (PMID: 37154149)\r\n> Authors discuss how the previous reports of agnathia-otocephaly don't fit with this new evidence and they showed that a missense variant previously reported in a patient with agnathia-otocephaly p.(Phe113Leu) did not affect nuclear import.\r\n\r\n\r\nSupporting evidence:\r\n> Post-natal calvarial stem cells expressing Prrx1 have been shown to reside exclusively in the calvarial suture niche, suggesting a requirement for PRRX1 regarding suture patency during early development (PMID: 28366454)\r\n\r\n>Prrx1 has been shown to be widely expressed within the mouse coronal suture (PMID: 34376651)","entity_name":"PRRX1","entity_type":"gene"},{"created":"2024-06-18T15:05:30.028541+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1840","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: PRRX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37154149, 28366454, 34376651; Phenotypes: Craniosynostosis (MONDO:0015469), PRRX1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRRX1","entity_type":"gene"},{"created":"2024-06-18T13:33:40.339831+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6041","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AFF2 were changed from Mental retardation, X-linked, FRAXE type 309548 to Intellectual disability, X-linked, FRAXE type 309548","entity_name":"AFF2","entity_type":"gene"},{"created":"2024-06-18T13:33:07.456532+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6040","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AFF2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"AFF2","entity_type":"gene"},{"created":"2024-06-18T13:32:38.253116+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6039","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AFF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"AFF2","entity_type":"gene"},{"created":"2024-06-18T13:31:55.234483+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6038","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: AFF2: Changed phenotypes: Intellectual disability, X-linked, FRAXE type 309548; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"AFF2","entity_type":"gene"},{"created":"2024-06-18T13:31:18.924987+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1840","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AFF2 were changed from Mental retardation, X-linked, FRAXE type 309548 to Intellectual disability, X-linked, FRAXE type, MIM#309548","entity_name":"AFF2","entity_type":"gene"},{"created":"2024-06-18T13:30:11.759849+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1839","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AFF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"AFF2","entity_type":"gene"},{"created":"2024-06-18T13:29:47.432934+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1838","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: AFF2: Changed phenotypes: Intellectual disability, X-linked, FRAXE type 309548; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"AFF2","entity_type":"gene"},{"created":"2024-06-17T19:06:36.127682+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.291","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF14 as ready","entity_name":"KIF14","entity_type":"gene"},{"created":"2024-06-17T19:06:36.114443+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.291","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif14 has been classified as Red List (Low Evidence).","entity_name":"KIF14","entity_type":"gene"},{"created":"2024-06-17T19:06:30.777567+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.291","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIF14 as Red List (low evidence)","entity_name":"KIF14","entity_type":"gene"},{"created":"2024-06-17T19:06:30.758803+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.291","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif14 has been classified as Red List (Low Evidence).","entity_name":"KIF14","entity_type":"gene"},{"created":"2024-06-17T12:36:38.608054+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.290","user_name":"Clare van Eyk","item_type":"entity","text":"gene: KIF14 was added\ngene: KIF14 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF14 were set to PMID: 38693247\nPhenotypes for gene: KIF14 were set to Microcephaly 20, primary, MIM#617914\nReview for gene: KIF14 was set to RED\nAdded comment: 1 individual reported with biallelic variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. \nSources: Literature","entity_name":"KIF14","entity_type":"gene"},{"created":"2024-06-14T16:56:27.943867+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.290","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GCDH were changed from Glutaricaciduria, type I MIM#231670 to Glutaric aciduria, type I MIM#231670","entity_name":"GCDH","entity_type":"gene"},{"created":"2024-06-14T16:52:37.802319+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.289","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GCDH were set to 30542205; 26593172","entity_name":"GCDH","entity_type":"gene"},{"created":"2024-06-14T16:50:23.392082+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.288","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GCDH as Green List (high evidence)","entity_name":"GCDH","entity_type":"gene"},{"created":"2024-06-14T16:50:23.376753+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.288","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gcdh has been classified as Green List (High Evidence).","entity_name":"GCDH","entity_type":"gene"},{"created":"2024-06-14T16:41:52.424211+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1838","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RDH14 as ready","entity_name":"RDH14","entity_type":"gene"},{"created":"2024-06-14T16:41:52.408554+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1838","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rdh14 has been classified as Red List (Low Evidence).","entity_name":"RDH14","entity_type":"gene"},{"created":"2024-06-14T16:41:42.481043+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1838","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RDH14 was added\ngene: RDH14 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RDH14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RDH14 were set to 34848785\nPhenotypes for gene: RDH14 were set to Neurodevelopmental disorder, MONDO:0700092, RDH14-related\nReview for gene: RDH14 was set to RED\nAdded comment: Two related individuals with ID and cerebellar atrophy and homozygous LoF variant reported. \nSources: Literature","entity_name":"RDH14","entity_type":"gene"},{"created":"2024-06-14T16:39:18.544750+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6038","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RDH14 as ready","entity_name":"RDH14","entity_type":"gene"},{"created":"2024-06-14T16:39:18.527796+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6038","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rdh14 has been classified as Red List (Low Evidence).","entity_name":"RDH14","entity_type":"gene"},{"created":"2024-06-14T16:39:04.403130+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6038","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RDH14 was added\ngene: RDH14 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RDH14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RDH14 were set to 34848785\nPhenotypes for gene: RDH14 were set to Neurodevelopmental disorder, MONDO:0700092, RDH14-related\nReview for gene: RDH14 was set to RED\nAdded comment: Two related individuals with ID and cerebellar atrophy and homozygous LoF variant reported. \nSources: Literature","entity_name":"RDH14","entity_type":"gene"},{"created":"2024-06-14T15:41:45.777172+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.96","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:GBA from the panel","entity_name":null,"entity_type":null},{"created":"2024-06-14T15:40:39.890279+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.287","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HSPD1 as ready","entity_name":"HSPD1","entity_type":"gene"},{"created":"2024-06-14T15:40:39.865718+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.287","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hspd1 has been classified as Red List (Low Evidence).","entity_name":"HSPD1","entity_type":"gene"},{"created":"2024-06-14T15:40:33.953450+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.287","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HSPD1 as Red List (low evidence)","entity_name":"HSPD1","entity_type":"gene"},{"created":"2024-06-14T15:40:33.941648+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.287","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hspd1 has been classified as Red List (Low Evidence).","entity_name":"HSPD1","entity_type":"gene"},{"created":"2024-06-14T15:39:43.483858+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.286","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GBA as ready","entity_name":"GBA","entity_type":"gene"},{"created":"2024-06-14T15:39:43.469255+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.286","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gba has been classified as Red List (Low Evidence).","entity_name":"GBA","entity_type":"gene"},{"created":"2024-06-14T15:39:37.745087+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.286","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GBA as Red List (low evidence)","entity_name":"GBA","entity_type":"gene"},{"created":"2024-06-14T15:39:37.732699+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.286","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gba has been classified as Red List (Low Evidence).","entity_name":"GBA","entity_type":"gene"},{"created":"2024-06-14T15:38:45.620438+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.285","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GALC as ready","entity_name":"GALC","entity_type":"gene"},{"created":"2024-06-14T15:38:45.606505+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.285","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: galc has been classified as Amber List (Moderate Evidence).","entity_name":"GALC","entity_type":"gene"},{"created":"2024-06-14T15:37:52.440542+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.285","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GALC as Amber List (moderate evidence)","entity_name":"GALC","entity_type":"gene"},{"created":"2024-06-14T15:37:52.425174+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.285","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: galc has been classified as Amber List (Moderate Evidence).","entity_name":"GALC","entity_type":"gene"},{"created":"2024-06-14T15:37:16.997732+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.284","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:AGA from the panel","entity_name":null,"entity_type":null},{"created":"2024-06-14T15:15:20.206334+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.283","user_name":"Clare van Eyk","item_type":"entity","text":"gene: HSPD1 was added\ngene: HSPD1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: HSPD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HSPD1 were set to PMID: 38693247\nPhenotypes for gene: HSPD1 were set to Leukodystrophy, hypomyelinating, 4, MIM#612233\nReview for gene: HSPD1 was set to RED\nAdded comment: 1 individual reported with homozygous likely pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. HLD4 has been reported to show rapidly progressive prominent spasticity and developmental regression. \nSources: Literature","entity_name":"HSPD1","entity_type":"gene"},{"created":"2024-06-14T13:55:17.591888+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.283","user_name":"Clare van Eyk","item_type":"entity","text":"reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Glutaricaciduria, type I MIM#231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GCDH","entity_type":"gene"},{"created":"2024-06-14T13:47:43.491563+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.283","user_name":"Clare van Eyk","item_type":"entity","text":"gene: GBA was added\ngene: GBA was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GBA were set to PMID: 38693247\nPhenotypes for gene: GBA were set to Gaucher disease, MIM#231000\nReview for gene: GBA was set to RED\nAdded comment: 1 individual reported with homozygous pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Gaucher disease can be associated with ataxia, dystonia and spasticity with variable age of onset.\r\nSources: Literature \nSources: Literature","entity_name":"GBA","entity_type":"gene"},{"created":"2024-06-14T13:46:32.797338+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.95","user_name":"Clare van Eyk","item_type":"entity","text":"Deleted their review","entity_name":"GBA","entity_type":"gene"},{"created":"2024-06-14T13:45:12.464823+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.95","user_name":"Clare van Eyk","item_type":"entity","text":"gene: GBA was added\ngene: GBA was added to Brain Calcification. Sources: Literature\nMode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GBA were set to PMID: 38693247\nPhenotypes for gene: GBA were set to Gaucher disease, MIM#231000\nReview for gene: GBA was set to RED\nAdded comment: 1 individual reported with homozygous pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Gaucher disease can be associated with ataxia, dystonia and spasticity with variable age of onset. \nSources: Literature","entity_name":"GBA","entity_type":"gene"},{"created":"2024-06-13T21:05:45.119166+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.283","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FAM20C as ready","entity_name":"FAM20C","entity_type":"gene"},{"created":"2024-06-13T21:05:45.102754+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.283","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fam20c has been classified as Red List (Low Evidence).","entity_name":"FAM20C","entity_type":"gene"},{"created":"2024-06-13T21:05:40.217385+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.283","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FAM20C as Red List (low evidence)","entity_name":"FAM20C","entity_type":"gene"},{"created":"2024-06-13T21:05:40.202921+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.283","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fam20c has been classified as Red List (Low Evidence).","entity_name":"FAM20C","entity_type":"gene"},{"created":"2024-06-13T21:04:56.384289+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.282","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GAMT as ready","entity_name":"GAMT","entity_type":"gene"},{"created":"2024-06-13T21:04:56.361016+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.282","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gamt has been classified as Red List (Low Evidence).","entity_name":"GAMT","entity_type":"gene"},{"created":"2024-06-13T21:04:52.144698+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.282","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GAMT as Red List (low evidence)","entity_name":"GAMT","entity_type":"gene"},{"created":"2024-06-13T21:04:52.128855+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.282","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gamt has been classified as Red List (Low Evidence).","entity_name":"GAMT","entity_type":"gene"},{"created":"2024-06-13T15:14:03.655902+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.281","user_name":"Clare van Eyk","item_type":"entity","text":"gene: GAMT was added\ngene: GAMT was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GAMT were set to PMID: 38693247\nPhenotypes for gene: GAMT were set to Cerebral creatine deficiency syndrome 2, MIM#612736\nReview for gene: GAMT was set to AMBER\nAdded comment: 1 individual reported with CP and biallelic variants (missense and stopgain) in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Cerebral creatine deficiency syndrome 2 is associated with prominent movement disturbances and can be initially diagnosed as CP (PMID: 31380813). \nSources: Literature","entity_name":"GAMT","entity_type":"gene"},{"created":"2024-06-13T14:48:29.580444+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.281","user_name":"Clare van Eyk","item_type":"entity","text":"gene: FAM20C was added\ngene: FAM20C was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM20C were set to PMID: 38693247\nPhenotypes for gene: FAM20C were set to Raine syndrome, MIM#259775\nReview for gene: FAM20C was set to RED\nAdded comment: 1 individual reported with biallelic variants (1 stopgain, 1 frameshift) in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Raine syndrome was originally described as a neonatal osteosclerotic bone dysplasia of early and aggressive onset usually resulting in death within the first few weeks of life, however more recently non-lethal cases with a variable spectrum of features including neurological have been described (PMID: 32299476). \nSources: Literature","entity_name":"FAM20C","entity_type":"gene"},{"created":"2024-06-13T14:45:18.669982+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.66","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HGD as ready","entity_name":"HGD","entity_type":"gene"},{"created":"2024-06-13T14:45:18.654329+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.66","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hgd has been classified as Green List (High Evidence).","entity_name":"HGD","entity_type":"gene"},{"created":"2024-06-13T14:45:11.433802+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.66","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HGD as Green List (high evidence)","entity_name":"HGD","entity_type":"gene"},{"created":"2024-06-13T14:45:11.415519+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.66","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hgd has been classified as Green List (High Evidence).","entity_name":"HGD","entity_type":"gene"},{"created":"2024-06-13T14:44:29.456284+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.65","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HIBADH as ready","entity_name":"HIBADH","entity_type":"gene"},{"created":"2024-06-13T14:44:29.436646+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hibadh has been classified as Red List (Low Evidence).","entity_name":"HIBADH","entity_type":"gene"},{"created":"2024-06-13T14:44:16.402503+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.65","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HIBADH as Red List (low evidence)","entity_name":"HIBADH","entity_type":"gene"},{"created":"2024-06-13T14:44:16.385655+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hibadh has been classified as Red List (Low Evidence).","entity_name":"HIBADH","entity_type":"gene"},{"created":"2024-06-13T14:43:42.286229+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.64","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HPD as ready","entity_name":"HPD","entity_type":"gene"},{"created":"2024-06-13T14:43:42.272891+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hpd has been classified as Green List (High Evidence).","entity_name":"HPD","entity_type":"gene"},{"created":"2024-06-13T14:43:30.631072+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.64","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HPD as Green List (high evidence)","entity_name":"HPD","entity_type":"gene"},{"created":"2024-06-13T14:43:30.606135+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hpd has been classified as Green List (High Evidence).","entity_name":"HPD","entity_type":"gene"},{"created":"2024-06-13T14:38:50.607514+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1837","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HYKK as ready","entity_name":"HYKK","entity_type":"gene"},{"created":"2024-06-13T14:38:50.594335+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1837","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hykk has been classified as Red List (Low Evidence).","entity_name":"HYKK","entity_type":"gene"},{"created":"2024-06-13T14:38:12.358423+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1837","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HYKK was added\ngene: HYKK was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HYKK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HYKK were set to 23242558\nPhenotypes for gene: HYKK were set to inborn disorder of lysine and hydroxylysine metabolism MONDO:0017351\nReview for gene: HYKK was set to RED\nAdded comment: No known gene-disease association as classified by ClinGen Aminoacidopathy GCEP on 14/07/2023 - https://search.clinicalgenome.org/CCID:005104 HYKK has been reported as a disorders of lysine, hydroxylysine, and tryptophan metabolism by ICIMD however there are no reported pathogenic variants in this gene to support the gene-disease association. \nSources: Literature","entity_name":"HYKK","entity_type":"gene"},{"created":"2024-06-13T14:36:53.941583+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.281","user_name":"Clare van Eyk","item_type":"entity","text":"gene: GALC was added\ngene: GALC was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GALC were set to PMID: 38693247\nPhenotypes for gene: GALC were set to Krabbe disease, MIM#245200\nReview for gene: GALC was set to AMBER\nAdded comment: 2 individuals reported with biallelic P/LP variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Krabbe disease is associated with progressive spasticity with variable at age at onset. Later onset can be associated with a slower progression and can mimic CP. \nSources: Literature","entity_name":"GALC","entity_type":"gene"},{"created":"2024-06-13T14:35:25.356022+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.63","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HYKK as ready","entity_name":"HYKK","entity_type":"gene"},{"created":"2024-06-13T14:35:25.342122+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.63","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hykk has been classified as Red List (Low Evidence).","entity_name":"HYKK","entity_type":"gene"},{"created":"2024-06-13T14:35:20.283970+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.63","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HYKK as Red List (low evidence)","entity_name":"HYKK","entity_type":"gene"},{"created":"2024-06-13T14:35:20.265095+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.63","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hykk has been classified as Red List (Low Evidence).","entity_name":"HYKK","entity_type":"gene"},{"created":"2024-06-13T14:34:30.435017+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1836","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KMO as ready","entity_name":"KMO","entity_type":"gene"},{"created":"2024-06-13T14:34:30.415702+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1836","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kmo has been classified as Red List (Low Evidence).","entity_name":"KMO","entity_type":"gene"},{"created":"2024-06-13T14:34:08.478718+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1836","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KMO was added\ngene: KMO was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KMO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KMO were set to 28187857; 24189070\nPhenotypes for gene: KMO were set to pellagra MONDO:0019975\nReview for gene: KMO was set to RED\nAdded comment: Classified as no known disease relationship by ClinGen Aminoacidopathy GCEP on 12/05/2023 - https://search.clinicalgenome.org/CCID:005248 Only two knock out mouse models have ben reported that exhibited behavioural changes including memory impairment and anxiety like behaviour. Not reported as disease causing in any affected individuals at this stage and no evidence of any inborn errors of amino acid metabolism. \nSources: Literature","entity_name":"KMO","entity_type":"gene"},{"created":"2024-06-13T14:31:54.987653+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.62","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KMO as ready","entity_name":"KMO","entity_type":"gene"},{"created":"2024-06-13T14:31:54.972489+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.62","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kmo has been classified as Red List (Low Evidence).","entity_name":"KMO","entity_type":"gene"},{"created":"2024-06-13T14:31:33.368022+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.62","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KMO as Red List (low evidence)","entity_name":"KMO","entity_type":"gene"},{"created":"2024-06-13T14:31:33.346549+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.62","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kmo has been classified as Red List (Low Evidence).","entity_name":"KMO","entity_type":"gene"},{"created":"2024-06-13T14:30:51.885181+10:00","panel_name":"Vitamin metabolism disorders","panel_id":4257,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MCEE as ready","entity_name":"MCEE","entity_type":"gene"}]}