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Monogenic hearing loss v6.41 DIAPH3 Ida Ertmanska Mode of pathogenicity for gene: DIAPH3 was changed from Other - please provide details in the comments to None
Monogenic hearing loss v6.40 DIAPH3 Ida Ertmanska changed review comment from: Comment on list classification: There are now more than 3 unrelated families reported where monoallelic DIAPH3 variants have been reported to co-segregate with dominant hearing loss. There is only one pedigree reported where some affected individuals were homozygous. Hence, this gene can be promoted to Green on Monogenic hearing loss, with MOI set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted.; to: Comment on list classification: There are now more than 3 unrelated families reported where monoallelic DIAPH3 variants have been reported to co-segregate with dominant hearing loss. There is only one pedigree reported where some affected individuals were heterozygous and some homozygous (no difference in phenotype). Hence, this gene can be promoted to Green on Monogenic hearing loss, with MOI set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted, until more evidence emerges for biallelic cases.
Monogenic hearing loss v6.40 DIAPH3 Ida Ertmanska commented on gene: DIAPH3: Comment on list classification: There are now more than 3 unrelated families reported where monoallelic DIAPH3 variants have been reported to co-segregate with dominant hearing loss. There is only one pedigree reported where some affected individuals were homozygous. Hence, this gene can be promoted to Green on Monogenic hearing loss, with MOI set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted.
Monogenic hearing loss v6.40 DIAPH3 Ida Ertmanska Phenotypes for gene: DIAPH3 were changed from Auditory neuropathy, autosomal dominant, 1, 609129 to Auditory neuropathy, autosomal dominant 1, OMIM:609129; autosomal dominant auditory neuropathy 1, MONDO:0012196
Monogenic hearing loss v6.39 DIAPH3 Ida Ertmanska Publications for gene: DIAPH3 were set to 14767582; 15520414; 18755006; 19457867; 20624953; 20624953; 27658576
Monogenic hearing loss v6.38 DIAPH3 Ida Ertmanska Mode of inheritance for gene: DIAPH3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic hearing loss v6.37 DIAPH3 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: DIAPH3.
Monogenic hearing loss v6.37 DIAPH3 Ida Ertmanska reviewed gene: DIAPH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 38860500, 39767564, 40040362, 41511813; Phenotypes: Auditory neuropathy, autosomal dominant 1, OMIM:609129, autosomal dominant auditory neuropathy 1, MONDO:0012196; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic hearing loss v1.83 DIAPH3 Eleanor Williams Publications for gene: DIAPH3 were set to PMID: 14767582; 15520414; 18755006; 19457867; 20624953
Monogenic hearing loss v1.82 DIAPH3 Eleanor Williams Classified gene: DIAPH3 as Amber List (moderate evidence)
Monogenic hearing loss v1.82 DIAPH3 Eleanor Williams Added comment: Comment on list classification: Changing the rating from red to amber as there are now 2 reported cases.
Monogenic hearing loss v1.82 DIAPH3 Eleanor Williams Gene: diaph3 has been classified as Amber List (Moderate Evidence).
Monogenic hearing loss v1.81 DIAPH3 Eleanor Williams commented on gene: DIAPH3
Monogenic hearing loss v1.59 DIAPH3 Emma Ashton reviewed gene: DIAPH3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20624953, 27658576; Phenotypes: ; Mode of inheritance: