DPH1

diphthamide biosynthesis 1
OMIM: 603527, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber DPH1 in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.72	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes 616901 DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR
Green DPH1 in Mendeliome Version 1.3520	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental delay with short stature, dysmorphic facial features, and sparse hair, MIM# 616901
Green DPH1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.411	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental delay with short stature, dysmorphic facial features, and sparse hair, MIM#616901
Green DPH1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Developmental delay with short stature, dysmorphic features, and sparse hair, 616901 (3), Autosomal recessive
Green DPH1 in Fetal anomalies Version 1.465	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Developmental delay with short stature, dysmorphic facial features, and sparse hair, OMIM:616901
Green DPH1 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Developmental delay with short stature, dysmorphic features, and sparse hair, 616901 (3), Autosomal recessive