Activity
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| Childhood interstitial lung disease v0.5 | FARSB | Achchuthan Shanmugasundram commented on gene: FARSB: FARSB has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood interstitial lung disease v0.2 | FARSB | Achchuthan Shanmugasundram reviewed gene: FARSB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Rajab interstitial lung disease with brain calcifications 1, OMIM:613658, Rajab interstitial lung disease with brain calcifications 1, MONDO:0100215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood interstitial lung disease v0.1 | FARSB |
Achchuthan Shanmugasundram gene: FARSB was added gene: FARSB was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: FARSB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FARSB were set to Rajab interstitial lung disease with brain calcifications 1, OMIM:613658; Rajab interstitial lung disease with brain calcifications 1, MONDO:0100215 |
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