SH3PXD2B

SH3 and PX domains 2B
OMIM: 613293, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green SH3PXD2B in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.47	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list NHS GMS Phenotypes Frank-ter Haar syndrome, OMIM:249420
Green SH3PXD2B in Rare genetic inflammatory skin disorders Level 2: Dermatology Version 4.18 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes FRANK-TER HAAR SYNDROME, OMIM:249420
Green SH3PXD2B in Skeletal dysplasia Level 2: Musculoskeletal Version 8.38 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Expert list Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Frank-ter Haar syndrome 249420
Green SH3PXD2B in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.181 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes FRANK-TER HAAR SYNDROME
Red SH3PXD2B in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 2: Musculoskeletal Version 6.4 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Expert list Phenotypes Borrone dermato-cardio-skeletal syndrome Frank-ter-har 249420 249420
No list SH3PXD2B in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.5 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Expert Review Removed Emory Genetics Laboratory Phenotypes Disproportionate Short Stature Tags curated_removed
Green SH3PXD2B in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FRANK-TER HAAR SYNDROME 249420
Red SH3PXD2B in Intellectual disability Level 2: Developmental disorders Version 9.345 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Frank-ter Haar syndrome, 249420
Green SH3PXD2B in Structural eye disease Level 2: Ophthalmology Version 4.40 Latest signed off version: v4.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Frank-ter Haar syndrome, 249420