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  3. PBX1
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Intellectual disability syndromic and non-syndromic

Gene: PBX1

Green List (high evidence)
PBX1 (PBX homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000185630
EnsemblGeneIds (GRCh37): ENSG00000185630
OMIM: 176310, Gene2Phenotype
PBX1 is in 10 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Multiple patients wit CAKUT with heterozygous variants in PBX1. In vitro functional expression studies of 5 of the mutations showed variable disturbances in protein function. Pbx1-null mouse embryos died at about E15.5. The kidneys were reduced in size and axially mispositioned, had fewer nephrons than controls, and sometimes showed unilateral agenesis.

CAKUTHED is an autosomal dominant highly pleiotropic developmental disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss. Most individuals have global developmental delay. More than 10 unrelated families reported.
Created: 16 Nov 2023, 10:45 p.m. | Last Modified: 16 Nov 2023, 10:45 p.m.
Panel Version: 0.5613

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM #617641

Publications

  • Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM #617641

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Nov 2023, 10:45 p.m.
Last Modified: 16 Nov 2023, 10:45 p.m.
Panel version: 0.5613

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM #617641
OMIM
176310
Clinvar variants
Variants in PBX1
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pbx1 has been classified as Green List (High Evidence).

17 Nov 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PBX1 were changed from to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM #617641

17 Nov 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PBX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PBX1 was added gene: PBX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PBX1 was set to Unknown