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Monogenic hearing loss v3.7 PBX1 Arina Puzriakova Tag Q4_21_rating was removed from gene: PBX1.
Monogenic hearing loss v3.7 PBX1 Arina Puzriakova reviewed gene: PBX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic hearing loss v3.6 PBX1 Arina Puzriakova Source NHS GMS was added to PBX1.
Source Expert Review Green was added to PBX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v2.214 PBX1 Eleanor Williams Publications for gene: PBX1 were set to 28566479; 29036646
Monogenic hearing loss v2.213 PBX1 Eleanor Williams Mode of inheritance for gene: PBX1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Monogenic hearing loss v2.212 PBX1 Eleanor Williams Tag Q4_21_rating tag was added to gene: PBX1.
Monogenic hearing loss v2.212 PBX1 Eleanor Williams changed review comment from: Comment on list classification: Promoting from grey to amber. 3 cases but in 1 case 7 other genes also deleted, and in another hearing loss was unilateral only.; to: Comment on list classification: Promoting from grey to amber. Deletions affecting more than just the PBX1 gene is reported for many, but in 3 cases only the PBX1 gene is affected. Recommend green rating following GMS review.
Monogenic hearing loss v2.212 PBX1 Eleanor Williams changed review comment from: Associated with Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay #617641 (AD) in OMIM.

3 cases with reported hearing loss among other anomalies, but in one case a further 7 genes are deleted, and in one case the hearing loss was unilateral only.

PMID: 28566479 - Heidet et al 2017 - performed targeted exome screening of candidate 330 genes in a cohort of 204 patients with CAKUT and 11 patients suspected to suffer from branchio-oto-renal syndrome. 2 out of 5 patients with heterozygous loss of function mutations/deletions in PBX1 are reported to have deafness in addition to a renal phenotype. In patient K175 there was a de novo heterozygous 1 bp deletion leading to a frameshift. In patient K1819 there was a de novo 2.46-Mb deletion removing the whole PBX1 gene along with 7 other genes. Further details about the loss of hearing phenotype are not given.

PMID: 29036646 - Slavotinek et al 2017 - report 8 patients with de novo, deleterious sequence variants in the PBX1. 3 had external ear abnormalities but only 1 is reported to have hearing loss and this is unilateral, mild to moderate conductive hearing loss. This patient was found to have a heterozygous, de novo indel c.783dupC, predicting (p.Ser262Glnfs*2 in PBX1.; to: Associated with Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay #617641 (AD) in OMIM.

3 cases reported where only the PBX1 gene is affected (indels or deletion covering only the PBX1 gene). In one of these cases the phenotype is syndromic but hearing loss is unilateral only. In 5 further cases hearing loss is reported and involve microdeletions covering more genes that just PBX1.

PMID: 28566479 - Heidet et al 2017 - performed targeted exome screening of candidate 330 genes in a cohort of 204 patients with CAKUT and 11 patients suspected to suffer from branchio-oto-renal syndrome. 2 out of 5 patients with heterozygous loss of function mutations/deletions in PBX1 are reported to have deafness in addition to a renal phenotype. In patient K175 there was a de novo heterozygous 1 bp deletion leading to a frameshift. In patient K1819 there was a de novo 2.46-Mb deletion removing the whole PBX1 gene along with 7 other genes. Further details about the loss of hearing phenotype are not given.

PMID: 29036646 - Slavotinek et al 2017 - report 8 patients with de novo, deleterious sequence variants in the PBX1. 3 had external ear abnormalities but only 1 is reported to have hearing loss and this is unilateral, mild to moderate conductive hearing loss. This patient was found to have a heterozygous, de novo indel c.783dupC, predicting (p.Ser262Glnfs*2 in PBX1.

PMID: 28270404 - Le Tanno et al 2017 - eight patients presenting with CAKUT carrying an 1q23.3q24.1 microdeletion. They defined a 276-kb minimal common region that only overlaps with the PBX1 gene. 5 patients presented with varying degrees of hearing impairment (no detailed assessments). Patient 8, in which the deletion only covers the PBX1 gene showed an obvious bilateral dysplasia leading to a conductive hearing defect.
Monogenic hearing loss v2.212 PBX1 Eleanor Williams Classified gene: PBX1 as Amber List (moderate evidence)
Monogenic hearing loss v2.212 PBX1 Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber. 3 cases but in 1 case 7 other genes also deleted, and in another hearing loss was unilateral only.
Monogenic hearing loss v2.212 PBX1 Eleanor Williams Gene: pbx1 has been classified as Amber List (Moderate Evidence).
Monogenic hearing loss v2.211 PBX1 Eleanor Williams Phenotypes for gene: PBX1 were changed from Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM:617641; congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MONDO:0060549
Monogenic hearing loss v2.210 PBX1 Eleanor Williams Publications for gene: PBX1 were set to
Monogenic hearing loss v2.209 PBX1 Eleanor Williams reviewed gene: PBX1: Rating: ; Mode of pathogenicity: None; Publications: 28566479, 29036646; Phenotypes: Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM:617641; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Monogenic hearing loss v2.209 PBX1 Dmitrijs Rots gene: PBX1 was added
gene: PBX1 was added to Hearing loss. Sources: Literature
Mode of inheritance for gene: PBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PBX1 were set to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Review for gene: PBX1 was set to GREEN
Added comment: Well known disease gene. As OMIM disease name suggests, hearing loss with ear abnormalities is common (reported in at least 5 cases).
Sources: Literature