TMEM231

transmembrane protein 231
OMIM: 614949, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green TMEM231 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Joubert syndrome 20, MIM# 614970 MONDO:0013994 Meckel syndrome 11, MIM# 615397 MONDO:0014164
Green TMEM231 in Joubert syndrome and other neurological ciliopathies Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Joubert syndrome 20, MIM# 614970 MONDO:0013994 Meckel syndrome 11, MIM# 615397 MONDO:0014164
Green TMEM231 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services
Green TMEM231 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services KidGen_CilioNephronop v38.1.0 Expert Review Green Phenotypes Joubert syndrome 20, MIM# 614970 MONDO:0013994 Meckel syndrome 11, MIM# 615397 MONDO:0014164
Green TMEM231 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Emory Genetics Laboratory Expert list NHS GMS Radboud University Medical Center, Nijmegen Expert Review Green UKGTN Expert Review Green Phenotypes Meckel syndrome 11 615397 Joubert syndrome 20 614970
Green TMEM231 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert list Expert Review Green Expert Review Green Phenotypes Joubert syndrome 20 MIM#614970
Green TMEM231 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Joubert syndrome 20, 614970 (3)
Green TMEM231 in Fetal anomalies Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert list Genomics England PanelApp Expert Review Green Phenotypes Joubert syndrome 20, MIM# 614970 MONDO:0013994 Meckel syndrome 11, MIM# 615397 MONDO:0014164
Green TMEM231 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Joubert syndrome 20, MIM#614970 Meckel syndrome 11, MIM#615397
Green TMEM231 in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Joubert syndrome 20, MIM#614970 Meckel syndrome 11, MIM#615397