| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.343 | Bryony Thompson removed gene:ADAR from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.136 | ADAR | Bryony Thompson Marked gene: ADAR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.136 | ADAR | Bryony Thompson Gene: adar has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.136 | ADAR | Bryony Thompson Classified gene: ADAR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.136 | ADAR | Bryony Thompson Gene: adar has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.135 | ADAR |
Bryony Thompson gene: ADAR was added gene: ADAR was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAR were set to 23001123; 27604308 Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6 MIM#615010; Disorders of nucleotide metabolism Review for gene: ADAR was set to GREEN gene: ADAR was marked as current diagnostic Added comment: Well-established gene-disease association (see OMIM entry). Aicardi-Goutieres syndrome is considered a disorder of nucleotide metabolism. Sources: NHS GMS |
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| Miscellaneous Metabolic Disorders v0.133 | EPG5 |
Bryony Thompson gene: EPG5 was added gene: EPG5 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPG5 were set to 23222957; 26715604 Phenotypes for gene: EPG5 were set to Vici syndrome MIM#242840; Congenital disorders of autophagy Review for gene: EPG5 was set to GREEN gene: EPG5 was marked as current diagnostic Added comment: Well-established gene-disease association (see OMIM entry). This gene is involved in autophagy, an intracellular pathway that deliver cytosolic cargo to lysosomes for degradation. Congenital disorders of autophagy are a class of inborn errors of neuro-metabolism. Sources: NHS GMS |
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| Miscellaneous Metabolic Disorders v0.59 | WDR45 |
Zornitza Stark gene: WDR45 was added gene: WDR45 was added to Miscellaneous Metabolic Disorders. Sources: Expert list Mode of inheritance for gene: WDR45 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: WDR45 were set to 23176820 Phenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5, MIM# 300894 Review for gene: WDR45 was set to GREEN Added comment: The WDR45 gene has an important role in the autophagy pathway, which is the major intracellular degradation system by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation. More than 20 unrelated individuals reported. XLD. Sources: Expert list |
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| Miscellaneous Metabolic Disorders v0.31 | ADA | Bryony Thompson Phenotypes for gene: ADA were changed from Adenosine deaminase deficiency, partial MIM#102700; Severe combined immunodeficiency due to ADA deficiency MIM#102700 to Adenosine deaminase deficiency, partial MIM#102700; Severe combined immunodeficiency due to ADA deficiency MIM#102700; disorder of purine metabolism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.19 | ADA | Bryony Thompson Marked gene: ADA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.19 | ADA | Bryony Thompson Gene: ada has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.19 | ADA | Bryony Thompson Classified gene: ADA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.19 | ADA | Bryony Thompson Gene: ada has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.18 | ADA |
Bryony Thompson gene: ADA was added gene: ADA was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADA were set to 3475710; 3684597; 2783588; 1680289 Phenotypes for gene: ADA were set to Adenosine deaminase deficiency, partial MIM#102700; Severe combined immunodeficiency due to ADA deficiency MIM#102700 Review for gene: ADA was set to GREEN gene: ADA was marked as current diagnostic Added comment: Well-established cause of disease (see OMIM). Biallelic variants cause an inborn error in purine metabolism. Sources: NHS GMS |
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