Activity

Filter

Cancel
Date Panel Item Activity
23 actions
Monogenic hearing loss v4.62 FOXI1 Achchuthan Shanmugasundram Tag watchlist_moi tag was added to gene: FOXI1.
Monogenic hearing loss v4.62 FOXI1 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: FOXI1.
Monogenic hearing loss v4.62 FOXI1 Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains BIALLELIC, autosomal or pseudoautosomal. The review from North Thames GLH notes that no good recent evidence to support monoallelic/digenic inheritance and suggests keeping under review. The review from North West GLH notes that biallelic inheritance is only applicable to hearing loss in ClinGen / OMIM - fits with KCNJ10 and SLC26A4.; to: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains BIALLELIC, autosomal or pseudoautosomal.

The review from North Thames GLH notes that no good recent evidence to support monoallelic/digenic inheritance and suggests keeping under review.

The review from North West GLH notes that biallelic inheritance is only applicable to hearing loss in ClinGen / OMIM - fits with KCNJ10 and SLC26A4.
Monogenic hearing loss v4.62 FOXI1 Achchuthan Shanmugasundram commented on gene: FOXI1
Monogenic hearing loss v4.25 FOXI1 Achchuthan Shanmugasundram Tag Q1_22_expert_review was removed from gene: FOXI1.
Tag Q1_22_MOI was removed from gene: FOXI1.
Monogenic hearing loss v3.7 FOXI1 Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: FOXI1.
Monogenic hearing loss v3.7 FOXI1 Arina Puzriakova commented on gene: FOXI1
Monogenic hearing loss v2.248 FOXI1 Eleanor Williams Tag Q1_22_expert_review tag was added to gene: FOXI1.
Monogenic hearing loss v2.237 FOXI1 Eleanor Williams Tag Q1_22_MOI tag was added to gene: FOXI1.
Monogenic hearing loss v2.230 FOXI1 Eleanor Williams Tag for-review was removed from gene: FOXI1.
Monogenic hearing loss v2.221 FOXI1 Eleanor Williams commented on gene: FOXI1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Monogenic hearing loss v2.220 FOXI1 Eleanor Williams Source Expert Review Green was added to FOXI1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.93 FOXI1 Eleanor Williams Tag for-review tag was added to gene: FOXI1.
Monogenic hearing loss v2.93 FOXI1 Eleanor Williams Classified gene: FOXI1 as Amber List (moderate evidence)
Monogenic hearing loss v2.93 FOXI1 Eleanor Williams Added comment: Comment on list classification: Promoting this gene from red to amber. There are 2 homozygous and several heterozygous cases reported and it could be promoted to green after GMS review. Although most cases are syndromic hearing loss is a major feature. There is some debate about the whether it is homozygous only or also heterozygously inherited, however the homozygous cases are more convincing.
Monogenic hearing loss v2.93 FOXI1 Eleanor Williams Gene: foxi1 has been classified as Amber List (Moderate Evidence).
Monogenic hearing loss v2.92 FOXI1 Eleanor Williams edited their review of gene: FOXI1: Changed rating: GREEN
Monogenic hearing loss v2.92 FOXI1 Eleanor Williams reviewed gene: FOXI1: Rating: ; Mode of pathogenicity: None; Publications: 17503324, 29242249, 12642503, 9843211; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Monogenic hearing loss v2.4 FOXI1 Zornitza Stark reviewed gene: FOXI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29242249, 9843211, 17503324; Phenotypes: Enlarged vestibular aqueduct 600791, deafness, renal tubular acidosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Monogenic hearing loss v1.43 FOXI1 Ellen McDonagh commented on gene: FOXI1: A new publication reporting on three families with early-onset sensorineural deafness and distal renal tubular acidosis.
Monogenic hearing loss v1.43 FOXI1 Ellen McDonagh Publications for gene: FOXI1 were set to PMID:12642503; 15173882; 16932748; 17503324; 7957066; 8825632; 9843211
Monogenic hearing loss v1.42 FOXI1 Ellen McDonagh Added comment: Comment on mode of inheritance: See PMID: 29242249
Monogenic hearing loss v1.42 FOXI1 Ellen McDonagh Mode of inheritance for gene: FOXI1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal