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| Mendeliome v1.3322 | CCDC188 |
Chirag Patel gene: CCDC188 was added gene: CCDC188 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CCDC188 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC188 were set to 41004021 Phenotypes for gene: CCDC188 were set to Male infertility due to acephalic spermatozoa, MONDO:0035153 Review for gene: CCDC188 was set to GREEN Added comment: 2 patients from 2 unrelated families with acephalic spermatozoa syndrome. WES identified biallelic variants in CCDC188 gene (1 x homozygous, 1 x compound heterozygous). The variants (c.481C > T [p.Gln161*] and c.1022 + 1G > A [p. K325Afs*110]) were rare in gnomAD and segregated in the family with heterozygous carrier parents. Western blotting, RT-PCR, qPCR, and immunofluorescence showed depletion of CCDC188 protein (and SUN5 and PMFBP1 protein) in patient sperm. Mutations in SUN5 and PMFBP1 genes account for 75% patients with acephalic spermatozoa syndrome. Sources: Literature |
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| Mendeliome v1.3322 | CCDC188 |
Chirag Patel gene: CCDC188 was added gene: CCDC188 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CCDC188 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC188 were set to 41004021 Phenotypes for gene: CCDC188 were set to Male infertility due to acephalic spermatozoa, MONDO:0035153 Review for gene: CCDC188 was set to GREEN Added comment: 2 patients from 2 unrelated families with acephalic spermatozoa syndrome. WES identified biallelic variants in CCDC188 gene (1 x homozygous, 1 x compound heterozygous). The variants (c.481C > T [p.Gln161*] and c.1022 + 1G > A [p. K325Afs*110]) were rare in gnomAD and segregated in the family with heterozygous carrier parents. Western blotting, RT-PCR, qPCR, and immunofluorescence showed depletion of CCDC188 protein (and SUN5 and PMFBP1 protein) in patient sperm. Mutations in SUN5 and PMFBP1 genes account for 75% patients with acephalic spermatozoa syndrome. Sources: Literature |
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| Mendeliome v1.2883 | PMFBP1 | Lucy Spencer reviewed gene: PMFBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 31 MIM#618112; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13254 | PMFBP1 | Zornitza Stark Marked gene: PMFBP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13254 | PMFBP1 | Zornitza Stark Gene: pmfbp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13254 | PMFBP1 | Zornitza Stark Phenotypes for gene: PMFBP1 were changed from to Male infertility with teratozoospermia due to single gene mutation, MONDO:0018394 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13253 | PMFBP1 | Zornitza Stark Publications for gene: PMFBP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13252 | PMFBP1 | Zornitza Stark Mode of inheritance for gene: PMFBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13251 | PMFBP1 | Zornitza Stark reviewed gene: PMFBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33484382, 33452591, 32285443; Phenotypes: Male infertility with teratozoospermia due to single gene mutation, MONDO:0018394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13125 | FBP1 | Bryony Thompson Marked gene: FBP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13125 | FBP1 | Bryony Thompson Gene: fbp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13125 | FBP1 | Bryony Thompson Phenotypes for gene: FBP1 were changed from to fructose-1,6-bisphosphatase deficiency MONDO:0009251 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13123 | FBP1 | Bryony Thompson Publications for gene: FBP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13122 | FBP1 | Bryony Thompson Mode of inheritance for gene: FBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13121 | FBP1 | Bryony Thompson changed review comment from: Well-established gene-disease association. Fructose-1,6-bisphosphatase (FBP1) deficiency is metabolic disorder characterised by episodic acute crises of lactic acidosis and ketotic hypoglycaemia, manifesting as hyperventilation, apneic spells, seizures, and/or coma. Both SNVs and CNVs have been reported.; to: Well-established gene-disease association. Fructose-1,6-bisphosphatase (FBP1) deficiency is a metabolic disorder characterised by episodic acute crises of lactic acidosis and ketotic hypoglycaemia, manifesting as hyperventilation, apneic spells, seizures, and/or coma. Both SNVs and CNVs have been reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13121 | FBP1 | Bryony Thompson reviewed gene: FBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9382095, 12126934, 27101822, 30858132; Phenotypes: fructose-1,6-bisphosphatase deficiency MONDO:0009251; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | PMFBP1 |
Zornitza Stark gene: PMFBP1 was added gene: PMFBP1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PMFBP1 was set to Unknown |
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| Mendeliome v0.0 | FBP1 |
Zornitza Stark gene: FBP1 was added gene: FBP1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FBP1 was set to Unknown |
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