Genomics England
GMS Panels
Panels
Genes and Entities

SH3PXD2B

SH3 and PX domains 2B
OMIM: 613293
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FRANK-TER HAAR SYNDROME 249420
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FRANK-TER HAAR SYNDROME
Green
in Rare genetic inflammatory skin disorders
R-numbers: R332
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FRANK-TER HAAR SYNDROME, OMIM:249420
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Frank-ter Haar syndrome 249420
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Frank-ter Haar syndrome, 249420