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| Hereditary neuropathy or pain disorder v3.58 | SCO2 | Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: SCO2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.58 | SCO2 | Sarah Leigh reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.57 | SCO2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SCO2. Source NHS GMS was added to SCO2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v2.25 | SCO2 | Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: SCO2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v2.25 | SCO2 | Achchuthan Shanmugasundram Classified gene: SCO2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v2.25 | SCO2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated GREEN as there are four unrelated cases identified with CMT type 4 (axonal polyneuropathy). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v2.25 | SCO2 | Achchuthan Shanmugasundram Gene: sco2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v2.24 | SCO2 | Achchuthan Shanmugasundram Publications for gene: SCO2 were set to 29351582 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v2.23 | SCO2 | Achchuthan Shanmugasundram Phenotypes for gene: SCO2 were changed from axonal Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease type 4, MONDO:0018995; Mitochondrial complex IV deficiency, nuclear type 2, OMIM:604377 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v2.22 | SCO2 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v2.22 | SCO2 | Achchuthan Shanmugasundram edited their review of gene: SCO2: Changed rating: GREEN; Changed phenotypes to: Charcot-Marie-Tooth disease type 4, MONDO:0018995, Mitochondrial complex IV deficiency, nuclear type 2, OMIM:604377; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v2.22 | SCO2 |
Achchuthan Shanmugasundram commented on gene: SCO2: As reviewed by Zornitza Stark, PMID:29351582 reported two unrelated cases with compound heterozygous variants in SCO2 gene (p.Glu140Lys/ p.Pro169Thr and p.Asp135Gly/ p.Arg171Gln). These two patients presented with axonal polyneuropathy (Charcot-Marie-Tooth disease type 4). They developed predominantly motor neuropathy, survived infancy, and have not yet developed the cardiomyopathy that causes death in early infancy in previously reported patients associated with Mitochondrial complex IV deficiency, nuclear type 2 (MIM #604377). PMID:31844624 reported two siblings with homozygous missense variant in SCO2 gene (p.Arg255Trp) who presented with cerebellar ataxia, progressive peripheral axonal neuropathy and long survival. Similarly, homozygous variant p.Gly121Arg was identified in two brothers in PMID:35112411 and they were reported with axonal motor neuropathy like the other cases. Autosomal recessive variants in this gene have been associated with Mitochondrial complex IV deficiency, nuclear type 2 (MIM #604377) in OMIM and Gene2Phenotype, which primarily has a cardiac phenotype. The axonal neuropathy phenotype without cardiac presentation has not yet been recorded in these resources. |
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| Hereditary neuropathy or pain disorder v2.22 | SCO2 | Achchuthan Shanmugasundram reviewed gene: SCO2: Rating: ; Mode of pathogenicity: None; Publications: 29351582, 31844624, 35112411; Phenotypes: Charcot-Marie-Tooth disease type 4, MONDO:0018995, Mitochondrial complex IV deficiency, nuclear type 2 (MIM #604377).; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.4 | SCO2 |
Zornitza Stark gene: SCO2 was added gene: SCO2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert list Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCO2 were set to 29351582 Phenotypes for gene: SCO2 were set to axonal Charcot-Marie-Tooth disease Review for gene: SCO2 was set to AMBER Added comment: Two unrelated cases with compound heterozygous variants and a CMT phenotype. Cardiomyopathy not present. Sources: Expert list |
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