BOLA3

bolA family member 3
OMIM: 613183, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green BOLA3 in Mendeliome Version 1.2302	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299
Green BOLA3 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.108 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299
Green BOLA3 in Mitochondrial disease Level 2: Metabolic disorders Version 0.969 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services
Red BOLA3 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.572	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2, OMIM #614299)
Green BOLA3 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2, OMIM #614299)
Green BOLA3 in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.318 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM#614299
Green BOLA3 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Multiple mitochondrial dysfunctions syndrome 2, 614299 (3)
Amber BOLA3 in Fetal anomalies Version 1.313	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299
Green BOLA3 in Prepair 1000+ Level 2: Screening Version 1.1566	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia MIM#614299