GNB5

G protein subunit beta 5
OMIM: 604447, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green GNB5 in Mendeliome Version 1.3795	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0014953 Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173) Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182)
Green GNB5 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.307 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0014953 Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173) Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182)
Green GNB5 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.497	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0014953 Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173) Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182)
Green GNB5 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.111	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive
Red GNB5 in Fetal anomalies Version 1.481	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Expert list Phenotypes gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0014953 Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173) Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182)
Green GNB5 in Prepair 1000+ Level 2: Screening Version 2.15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173) Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182)
Green GNB5 in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173) Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182)