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Monogenic hearing loss v5.49 TUBB4B Ida Ertmanska Tag Q1_25_ promote_green was removed from gene: TUBB4B.
Monogenic hearing loss v5.49 TUBB4B Ida Ertmanska reviewed gene: TUBB4B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic hearing loss v5.48 TUBB4B Ida Ertmanska Source Expert Review Green was added to TUBB4B.
Source NHS GMS was added to TUBB4B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v4.84 ATP6V1B1 Sarah Leigh Phenotypes for gene: ATP6V1B1 were changed from hearing loss; Distal Renal Tubular Acidosis with Progressive Nerve Deafness; Renal tubular acidosis with deafness, 267300 to Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, OMIM:267300; renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss, MONDO:0009968
Monogenic hearing loss v4.83 ATP6V1B1 Sarah Leigh edited their review of gene: ATP6V1B1: Changed phenotypes to: Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, OMIM:267300, renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss, MONDO:0009968
Monogenic hearing loss v4.66 TUBB4B Achchuthan Shanmugasundram Classified gene: TUBB4B as Amber List (moderate evidence)
Monogenic hearing loss v4.66 TUBB4B Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least six unrelated patients reported with hearing loss and heterozygous TUBB4B variants. Hence, this gene can be promoted top green rating on the next GMS update.
Monogenic hearing loss v4.66 TUBB4B Achchuthan Shanmugasundram Gene: tubb4b has been classified as Amber List (Moderate Evidence).
Monogenic hearing loss v4.65 TUBB4B Achchuthan Shanmugasundram gene: TUBB4B was added
gene: TUBB4B was added to Monogenic hearing loss. Sources: Literature
dd_review, Q1_25_ promote_green tags were added to gene: TUBB4B.
Mode of inheritance for gene: TUBB4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBB4B were set to 29198720; 38662826; 39115449
Phenotypes for gene: TUBB4B were set to Leber congenital amaurosis with early-onset deafness, OMIM:617879; sensorineural hearing loss disorder, MONDO:0020678
Review for gene: TUBB4B was set to GREEN
Added comment: PMID:29198720 reported three patients of a family with early-onset retinal degeneration and hearing loss and they were identified with a heterozygous missense variant in TUBB4B gene (p.Arg391His).

PMID:38662826 reported a cohort of 12 patients with primary ciliary dyskinesia (PCD) and with heterozygous variants in TUBB4B gene. Four different variants were reported in these patients. Common clinical features of airway disease including chronic wet cough (7/12), recurrent infections (11/12), bronchiectasis (8/12) and rhinosinusitis (9/12) were observed across the cohort/ 6/12 patients were reported with hydrocephaly. Four patients with the p.Pro358Ser variant also presented with Leber congenital amaurosis (LCA) associated with sensorineural hearing loss (SNHL). Similar cellular phenotype was also observed in patient-derived respiratory epithelial cells.

PMID:39115449 reported eight patients with PCD, of which one patient was identified with a de novo variant in TUBB4B gene (p.Pro259Leu). This patient presented with airways disease and hearing loss.

This gene has been associated with Leber congenital amaurosis with early-onset deafness phenotype in OMIM (MIM #617879), but not yet in Gene2Phenotype.
Sources: Literature
Monogenic hearing loss v2.246 KCNJ16 Eleanor Williams changed review comment from: Associated with Hypokalemic tubulopathy and deafness OMIM#619406 (AR)

PMID:33811157 - Schlingmann et al 2021 - unable to access publication. Abstract does not give numbers of cases but OMIM states that "In 8 patients, including 1 sib pair, with hypokalemic tubulopathy and deafness, Schlingmann et al. (2021) identified homozygous or compound heterozygous mutations in the KCNJ16 gene". Details of the hearing loss could not be acertained.

PMID:33840812 - Webb et al 2021 - report a homozygous loss-of-function variant identified by WES in KCNJ16 in a 2-year-old female with a hypokalemic metabolic acidosis phenotype. Hearing loss is NOT mentioned.
Sources: Literature; to: Associated with Hypokalemic tubulopathy and deafness OMIM#619406 (AR)

PMID:33811157 - Schlingmann et al 2021 - report 8 patients from 7 families with hypokalemic tubulopathy and deafness. All patients had acidosis and sensorineural deafness. Hearing loss was diagnosed in childhood or adolescence. All were found to have homozygous or compound heterozygous variants in the KCNJ16 gene. 6 different variants were identified, either missense or nonsesnse. Functional studies showed that variants affect the function of heteromeric potassium channels.

PMID:33840812 - Webb et al 2021 - report a homozygous loss-of-function variant identified by WES in KCNJ16 in a 2-year-old female with a hypokalemic metabolic acidosis phenotype. Hearing loss is NOT mentioned.
Sources: Literature
Monogenic hearing loss v2.245 KCNJ16 Eleanor Williams gene: KCNJ16 was added
gene: KCNJ16 was added to Hearing loss. Sources: Literature
watchlist tags were added to gene: KCNJ16.
Mode of inheritance for gene: KCNJ16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCNJ16 were set to 33811157; 33840812
Phenotypes for gene: KCNJ16 were set to Hypokalemic tubulopathy and deafness, OMIM:619406
Review for gene: KCNJ16 was set to AMBER
Added comment: Associated with Hypokalemic tubulopathy and deafness OMIM#619406 (AR)

PMID:33811157 - Schlingmann et al 2021 - unable to access publication. Abstract does not give numbers of cases but OMIM states that "In 8 patients, including 1 sib pair, with hypokalemic tubulopathy and deafness, Schlingmann et al. (2021) identified homozygous or compound heterozygous mutations in the KCNJ16 gene". Details of the hearing loss could not be acertained.

PMID:33840812 - Webb et al 2021 - report a homozygous loss-of-function variant identified by WES in KCNJ16 in a 2-year-old female with a hypokalemic metabolic acidosis phenotype. Hearing loss is NOT mentioned.
Sources: Literature
Monogenic hearing loss v2.178 ATP6V0A4 Arina Puzriakova Phenotypes for gene: ATP6V0A4 were changed from to Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722
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.