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Mendeliome

Gene: SH3PXD2B

Green List (high evidence)

SH3PXD2B (SH3 and PX domains 2B)
EnsemblGeneIds (GRCh38): ENSG00000174705
EnsemblGeneIds (GRCh37): ENSG00000174705
OMIM: 613293, Gene2Phenotype
SH3PXD2B is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

The primary characteristics of the Frank-ter Haar syndrome are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones, and flexion deformity of the fingers. Protruding, simple ears and prominent coccyx are also regarded as important diagnostic signs.

Borrone syndrome was described as a severe progressive multisystem disorder with features overlapping those of FTHS, including thick skin, acne conglobata, osteolysis, gingival hypertrophy, brachydactyly, camptodactyly, and mitral valve prolapse. Although it was initially thought to be a distinct phenotype, mutations in the FTHS-associated gene SH3PXD2B have been identified in patients diagnosed with Borrone syndrome. The earlier differential description was attributed to phenotypic variability as well as to differences in the ages at which patients were examined.

Multiple families, animal models.
Created: 30 Dec 2021, 9:05 a.m. | Last Modified: 30 Dec 2021, 9:05 a.m.
Panel Version: 0.10417

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Frank-ter Haar syndrome, MIM# 249420

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Frank-ter Haar syndrome, MIM# 249420
OMIM
613293
Clinvar variants
Variants in SH3PXD2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sh3pxd2b has been classified as Green List (High Evidence).

30 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SH3PXD2B were changed from to Frank-ter Haar syndrome, MIM# 249420

30 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SH3PXD2B were set to

30 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SH3PXD2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SH3PXD2B was added gene: SH3PXD2B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SH3PXD2B was set to Unknown