1. Panels
  2. Osteogenesis Imperfecta and Osteoporosis
  3. PHLDB1
STRs in panel
Prev Next
Regions in panel
Prev Next

Osteogenesis Imperfecta and Osteoporosis

Gene: PHLDB1

Amber List (moderate evidence)
PHLDB1 (pleckstrin homology like domain family B member 1)
EnsemblGeneIds (GRCh38): ENSG00000019144
EnsemblGeneIds (GRCh37): ENSG00000019144
OMIM: 612834, Gene2Phenotype
PHLDB1 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type XXIII, MIM# 620639

Created: 1 Dec 2023, 2:34 a.m.
Last Modified: 1 Dec 2023, 2:34 a.m.
Panel version: 0.107

Seb Lunke (Victorian Clinical Genetics Services)

I don't know

5 children from two consanguineous families with recurrent fractures and/or osteopaenia, platyspondyly, short and bowed long bones, and widened metaphyses. Metaphyseal and vertebral changes regressed after early childhood, and no fractures occurred under bisphosphonate treatment.

Two independent nonsense variants were identified in the families, NM_001144758.3:c.2392dup (p.Leu798Profs*4) and NM_001144758.3:c.2690_2693del (p.Leu897Glnfs*24). RT-PCR and western blot analysis confirmed loss of transcript and protein product, respectively, but no further functional data provided.
Sources: Literature
Created: 5 Jan 2023, 3:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
osteogenesis imperfecta, MONDO:0019019

Publications

Created: 5 Jan 2023, 3:23 a.m.

Panel version: 0.87

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Osteogenesis imperfecta, type XXIII, MIM# 620639
OMIM
612834
Clinvar variants
Variants in PHLDB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PHLDB1 were changed from osteogenesis imperfecta, MONDO:0019019 to Osteogenesis imperfecta, type XXIII, MIM# 620639

5 Jan 2023, Gel status: 2

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: phldb1 has been classified as Amber List (Moderate Evidence).

5 Jan 2023, Gel status: 2

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: phldb1 has been classified as Amber List (Moderate Evidence).

5 Jan 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

gene: PHLDB1 was added gene: PHLDB1 was added to Osteogenesis Imperfecta. Sources: Literature Mode of inheritance for gene: PHLDB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHLDB1 were set to 36543534 Phenotypes for gene: PHLDB1 were set to osteogenesis imperfecta, MONDO:0019019 Review for gene: PHLDB1 was set to AMBER