BCAP31

B-cell receptor associated protein 31
OMIM: 300398, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green BCAP31 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Phenotypes Deafness, dystonia, and cerebral hypomyelination, MIM# 300475
Green BCAP31 in Mendeliome Version 1.1902	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, dystonia, and cerebral hypomyelination, MIM# 300475
Green BCAP31 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Deafness, dystonia, and cerebral hypomyelination, MIM# 300475
Green BCAP31 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Deafness, dystonia, and cerebral hypomyelination, MIM# 300475
Green BCAP31 in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 0.235 Component of the following Super Panels: Dystonia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions Tremors_Superpanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Deafness, dystonia and cerebellar hypomyelination, 300475
Green BCAP31 in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.308 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Deafness, dystonia, and cerebral hypomyelination, 300475
Red BCAP31 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Phenotypes Deafness, dystonia, and cerebral hypomyelination, MIM# 300475
Green BCAP31 in Fetal anomalies Version 1.255	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Deafness, dystonia, and cerebral hypomyelination, MIM# 300475
Red BCAP31 in Prepair 1000+ Level 2: Screening Version 1.9	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Phenotypes Deafness, dystonia, and cerebral hypomyelination, MIM# 300475