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| Renal tubulopathies v1.75 | FOXI1 | Eleanor Williams Phenotypes for gene: FOXI1 were changed from deafness; renal tubular acidosis to deafness; renal tubular acidosis; Early onset sensorinerual deafness and distal renal tubular acidosis (no OMIM number); Enlarged vestibular aqueducts, 6007910 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.16 | FOXI1 | Eleanor Williams reviewed gene: FOXI1: Rating: AMBER; Mode of pathogenicity: ; Publications: Enerback et al 2018 J Am Soc Nephrol 29 (3): 1041-1048. PMID: 29242249; Phenotypes: Early onset sensorinerual deafness and distal renal tubular acidosis (no OMIM number), Enlarged vestibular aqueducts, MIM 6007910; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.15 | FOXI1 | Eleanor Williams Source NHS GMS was added to FOXI1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.7 | FOXI1 | Ellen McDonagh Added comment: Comment on mode of inheritance: Homozygous variants were reported in PMID: 29242249. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.7 | FOXI1 | Ellen McDonagh Mode of inheritance for gene: FOXI1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.6 | FOXI1 | Ellen McDonagh Classified gene: FOXI1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.6 | FOXI1 | Ellen McDonagh Added comment: Comment on list classification: Gene add to the panel by Reviewer due to new publication reporting three families. Promoted to amber, awaiting Genomics England Clinical Team approval before making Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.6 | FOXI1 | Ellen McDonagh Gene: foxi1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.5 | FOXI1 |
John Sayer gene: FOXI1 was added gene: FOXI1 was added to Renal tubular acidosis. Sources: Expert Review,Literature Mode of inheritance for gene: FOXI1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: FOXI1 were set to 29242249 Phenotypes for gene: FOXI1 were set to deafness; renal tubular acidosis Penetrance for gene: FOXI1 were set to Incomplete Review for gene: FOXI1 was set to GREEN Added comment: New gene for RTA and deafness Sources: Expert Review, Literature |
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