TBCD:Ensemblv115

tubulin folding cofactor D
OMIM: 604649, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green TBCD in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
Red TBCD in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Red Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum MIM#617193
Green TBCD in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Expert Review Expert Review Green Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193
Green TBCD in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193
Green TBCD 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 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3), Autosomal recessive
Green TBCD in Fetal anomalies Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Genetic Health Queensland Expert Review Literature Genomics England PanelApp Expert Review Green Phenotypes Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193
Green TBCD in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193
Green TBCD in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193