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| Cerebral Palsy v1.315 | TAF1 | Clare van Eyk reviewed gene: TAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Intellectual developmental disorder, X-linked syndromic 33, OMIM #300966, Dystonia-Parkinsonism, X-linked, OMIM #314250; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.315 | PHF6 |
Clare van Eyk gene: PHF6 was added gene: PHF6 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PHF6 were set to PMID: 38693247 Phenotypes for gene: PHF6 were set to Borjeson-Forssman-Lehmann syndrome, MIM#301900 Review for gene: PHF6 was set to RED Added comment: Single male proband with hemizygous variant impacting splicing of the first non-coding exon reported in large-scale exome sequencing study (PMID: 38693247). In silico prediction is strong, but functional impact not assessed. Detailed clinical information not supplied. BFLS is characterized by short stature, obesity, hypogonadism, hypotonia, intellectual disability, distinctive facial features, fleshy ears, and finger and toe abnormalities. Sources: Literature |
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| Cerebral Palsy v1.194 | ZEB2 | Clare van Eyk reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Mowat-Wilson syndrome, MIM # 235730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.194 | SON | Clare van Eyk reviewed gene: SON: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 38693247, PMID: 37168776; Phenotypes: ZTTK syndrome MIM#617140; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.193 | DNMT3A |
Clare van Eyk gene: DNMT3A was added gene: DNMT3A was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DNMT3A were set to PMID: 38693247 Phenotypes for gene: DNMT3A were set to Heyn-Sproul-Jackson syndrome, MIM#618724; Tatton-Brown-Rahman syndrome, MIM#615879 Review for gene: DNMT3A was set to AMBER Added comment: 2 individuals reported with mono-allelic frameshift deletions in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Sources: Literature |
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| Cerebral Palsy v1.161 | SON | Zornitza Stark Marked gene: SON as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.161 | SON | Zornitza Stark Gene: son has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.161 | SON | Zornitza Stark Classified gene: SON as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.161 | SON | Zornitza Stark Gene: son has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.144 | SON |
Luisa Weiss gene: SON was added gene: SON was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SON was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SON were set to 33528536 Phenotypes for gene: SON were set to ZTTK syndrome MIM#617140 Review for gene: SON was set to AMBER Added comment: 2 individual cases in one large CP cohort study. However, usually ZITK syndrome is a multisystem disorder and intellectual disabilities, and organ malformations seem to be leading phenotypic features. Sources: Literature |
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| Cerebral Palsy v1.144 | SLC5A6 |
Luisa Weiss gene: SLC5A6 was added gene: SLC5A6 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC5A6 were set to 33528536; 21112253; 33098801 Phenotypes for gene: SLC5A6 were set to Parkinsonism-dystonia, infantile, 1 MIM#613135 Review for gene: SLC5A6 was set to GREEN Added comment: 21112253 presents a clinical overview of 11 children with biallelic SLC6A3 mutations, 7 of which were initially diagnosed with CP. In addition, two more CP cohort studies with one patient each harboring SLC6A3 mutations. Sources: Literature |
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| Cerebral Palsy v1.130 | PLA2G6 | Zornitza Stark Phenotypes for gene: PLA2G6 were changed from Infantile neuroaxonal dystrophy 1 MIM#256600; Neurodegeneration with brain iron accumulation 2B MIM#610217; Parkinson disease 14, autosomal recessive MIM#612953 to Neurodegeneration with brain iron accumulation 2B MIM#610217 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.88 | PLA2G6 |
Luisa Weiss gene: PLA2G6 was added gene: PLA2G6 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLA2G6 were set to 33528536; 34540776; 34788679 Phenotypes for gene: PLA2G6 were set to Infantile neuroaxonal dystrophy 1 MIM#256600; Neurodegeneration with brain iron accumulation 2B MIM#610217; Parkinson disease 14, autosomal recessive MIM#612953 Review for gene: PLA2G6 was set to GREEN Added comment: Three different individuals from three large CP cohort studies presenting with biallelic PLA2G6 mutations. Sources: Literature |
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| Cerebral Palsy v1.36 | ATP7B |
Luisa Weiss gene: ATP7B was added gene: ATP7B was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP7B were set to 34788679 Phenotypes for gene: ATP7B were set to Wilson disease MIM#277900 Review for gene: ATP7B was set to RED Added 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. Sources: Literature |
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| Cerebral Palsy v1.9 | ZEB2 |
Chirag Patel gene: ZEB2 was added gene: ZEB2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZEB2 were set to PMID: 33528536, 33098801 Phenotypes for gene: ZEB2 were set to Mowat-Wilson syndrome, OMIM # 235730 Review for gene: ZEB2 was set to GREEN Added comment: Neurodevelopmental disorder with DD, ID, epilepsy, and dysmorphism. Moreno-De-Luca et al. (2021) reported 3 patients with CP with P/LP variants. Zech et al. (2020) reported 1 patient with dystonic CP with de novo variant. Sources: Literature |
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| Cerebral Palsy v0.171 | TAF1 |
Chirag Patel gene: TAF1 was added gene: TAF1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: TAF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TAF1 were set to PMID: 26637982, 33528536, 17273961 Phenotypes for gene: TAF1 were set to Intellectual developmental disorder, X-linked syndromic 33, OMIM #300966; Dystonia-Parkinsonism, X-linked, OMIM #314250 Review for gene: TAF1 was set to GREEN Added comment: O'Rawe et al. (2015) reported 12 boys from 9 unrelated families with X-linked global developmental delay, intellectual disability, dysmorphism, generalized hypotonia, microcephaly and variable neurologic features (hypoplastic CC, spastic diplegia, dystonic movements, tremors). They identified 9 different hemizygous mutations in TAF1 gene (most de novo, 3 maternally inherited). No functional studies. The mutations were found by WGS, WES, targeted panel and microarray, and all confirmed by Sanger sequencing. Moreno-De-Luca et al. (2021) reported 2 patients with CP and de novo LP variant. Note: X-linked dystonia-parkinsonism (XDP) is caused by an SVA (short interspersed nuclear element, variable number of tandem repeats, and Alu composite) retrotransposon insertion in intron 32 of TAF1, which encodes the largest component of the TFIID complex, and resulted in significantly decreased expression levels of TAF1 and the dopamine receptor D2 gene (DRD2) in the caudate nucleus. Sources: Literature |
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| Cerebral Palsy v0.77 | ALDH3A2 |
Zornitza Stark gene: ALDH3A2 was added gene: ALDH3A2 was added to Cerebral Palsy. Sources: Expert list Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH3A2 were set to 9027499; 9829906; 28543186 Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome, MIM# 270200 Review for gene: ALDH3A2 was set to GREEN Added comment: Well established gene-disease association. Phenotypic overlap with CP: ID and spastic paraplegia. Sources: Expert list |
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