RBBP8

RB binding protein 8, endonuclease
OMIM: 604124, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green RBBP8 in Mendeliome Version 1.3512	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Jawad syndrome, MIM#251255 Seckel syndrome 2, MIM#606744
Green RBBP8 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.357	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Jawad syndrome, MIM# 251255 Seckel syndrome 2, MIM# 606744
Red RBBP8 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.565	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Jawad syndrome, MIM#251255 Seckel syndrome 2, MIM#606744
Green RBBP8 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Jawad syndrome, MIM#251255 Seckel syndrome 2, MIM#606744
Green RBBP8 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
Green RBBP8 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 Seckel syndrome 2, 606744 (3)
Amber RBBP8 in Growth failure Version 1.83	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Seckel syndrome 2, MIM# 606744
Green RBBP8 in Fetal anomalies Version 1.465	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Jawad syndrome, MIM# 251255 Seckel syndrome 2, MONDO:0011715 Seckel syndrome 2, OMIM:606744
Green RBBP8 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Jawad syndrome MIM#251255 Seckel syndrome 2 MIM#606744
Green RBBP8 in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Jawad syndrome MIM#251255 Seckel syndrome 2 MIM#606744