XRCC4

X-ray repair cross complementing 4
OMIM: 194363, ClinGen, DECIPHER

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green XRCC4 in Chromosome Breakage Disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.21	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short stature, microcephaly, and endocrine dysfunction, MIM# 616541 MONDO:0014686
Green XRCC4 in Mendeliome Version 1.2302	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short stature, microcephaly, and endocrine dysfunction, MIM# 616541 MONDO:0014686
Green XRCC4 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.295	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Short stature, microcephaly, and endocrine dysfunction (MIM#616541)
Green XRCC4 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Short stature, microcephaly, and endocrine dysfunction MIM#616541, MONDO:0014686
Green XRCC4 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list NHS GMS Victorian Clinical Genetics Services Phenotypes Short stature, microcephaly, and endocrine dysfunction 616541
Green XRCC4 in Microcephalic Primordial Dwarfism and Slender bone dysplasias Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.29	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Short stature, microcephaly, and endocrine dysfunction (MIM#616541)
Green XRCC4 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short stature, microcephaly, and endocrine dysfunction, 616541 (3), Autosomal recessive
Red XRCC4 in Primary Ovarian Insufficiency_Premature Ovarian Failure Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 0.339	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Short stature, microcephaly, and endocrine dysfunction MIM#616541
Green XRCC4 in Growth failure Version 1.76	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Short stature, microcephaly, and endocrine dysfunction, MIM# 616541 MONDO:0014686
Green XRCC4 in Fetal anomalies Version 1.313	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Short stature, microcephaly, and endocrine dysfunction, MIM#616541
Green XRCC4 in Prepair 1000+ Level 2: Screening Version 1.1566	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short stature, microcephaly, and endocrine dysfunction, 616541 (3), Autosomal recessive