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| Congenital muscular dystrophy v4.19 | GOLGA2 | Achchuthan Shanmugasundram Phenotypes for gene: GOLGA2 were changed from Secondary dystroglycanopathy; Developmental delay with hypotonia, myopathy, and brain abnormalities to Developmental delay with hypotonia, myopathy, and brain abnormalities, OMIM:620240 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.18 | GOLGA2 | Achchuthan Shanmugasundram edited their review of gene: GOLGA2: Changed phenotypes to: Developmental delay with hypotonia, myopathy, and brain abnormalities, OMIM:620240 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.18 | GOLGA2 | Achchuthan Shanmugasundram Classified gene: GOLGA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.18 | GOLGA2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there are three unrelated cases and zebrafish model in support of the disease association. Hence, this gene can be promoted to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.18 | GOLGA2 | Achchuthan Shanmugasundram Gene: golga2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.17 | GOLGA2 | Achchuthan Shanmugasundram Phenotypes for gene: GOLGA2 were changed from Secondary dystroglycanopathy to Secondary dystroglycanopathy; Developmental delay with hypotonia, myopathy, and brain abnormalities | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.16 | GOLGA2 | Achchuthan Shanmugasundram Publications for gene: GOLGA2 were set to 26742501; 30237576 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.15 | GOLGA2 |
Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: GOLGA2. Tag Q4_23_NHS_review tag was added to gene: GOLGA2. |
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| Congenital muscular dystrophy v4.15 | GOLGA2 | Achchuthan Shanmugasundram reviewed gene: GOLGA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.15 | GOLGA2 | Hannah Knight reviewed gene: GOLGA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34424553; Phenotypes: Developmental delay with hypotonia, myopathy, and brain abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.63 | GOLGA2 | Louise Daugherty commented on gene: GOLGA2: After review with Genomics England clinical team this gene was provisionally rated Amber on the basis of one family, as it is difficult to be confident about the extent of the phenotype so amber pending further cases or expert opinion. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.51 | GOLGA2 | Ivone Leong Classified gene: GOLGA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.51 | GOLGA2 | Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. GOLGA2 is not associated with any phenotype on OMIM or Gene2Phenotype. As the case presented in PMID: 30237576 lacked any information about patient family history, it is unclear whether the variant tracks with the phenotype. Therefore, given this gene an amber rating until further evidence is available. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.51 | GOLGA2 | Ivone Leong Gene: golga2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.50 | GOLGA2 |
Ivone Leong Added comment: Comment on publications: PMID: 26742501 reported on a consanguineous Saudi family where the proband is diagnosed with a neuromuscular disorder characterized by developmental delay, seizures, microcephaly and muscular dystrophy. The proband is homozygous for a small deletion in the GOLGA2 gene which resulted in a frameshift mutation. The same researchers knocked down zebrafish golga2 and showed that this affected the skeletal muscles of the fish and recapitulated the human phenotype. PMID: 30237576 is a large, high-throughput Mendelian disease study. One patient with global developmental delay, microcephaly and motor weakness affecting lower extremities. Muscle biopsy showed muscular dystrophy. The patient is homozygous for a different small deletion variant that causes frameshift mutation. No other details are given about family history/pedigree. |
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| Congenital muscular dystrophy v1.50 | GOLGA2 | Ivone Leong Publications for gene: GOLGA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.43 | GOLGA2 | Louise Daugherty reviewed gene: GOLGA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.29 | GOLGA2 | Louise Daugherty Phenotypes for gene: GOLGA2 were changed from to Secondary dystroglycanopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.28 | GOLGA2 | Louise Daugherty Mode of inheritance for gene: GOLGA2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.24 | GOLGA2 | Rachael Mein reviewed gene: GOLGA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: secondary dystroglycanopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.23 | GOLGA2 | Louise Daugherty Source NHS GMS was added to GOLGA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v1.22 | GOLGA2 |
Louise Daugherty gene: GOLGA2 was added gene: GOLGA2 was added to Congenital muscular dystrophy. Sources: London South GLH Mode of inheritance for gene: GOLGA2 was set to |
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