ASCL1:Ensemblv90

achaete-scute family bHLH transcription factor 1
OMIM: 100790, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Amber ASCL1 in Central Hypoventilation Level 2: Neurology and neurodevelopmental disorders Version 1.6	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Central hypoventilation syndrome, congenital, MIM# 209880
Amber ASCL1 in Interstitial Lung Disease Level 2: Respiratory disorders Version 1.4	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Central hypoventilation syndrome, congenital, MIM# 209880
Amber ASCL1 in Mendeliome Version 1.3802	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Central hypoventilation syndrome, congenital, MIM# 209880
Amber ASCL1 in Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 0.178	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Central hypoventilation syndrome, congenital, MIM# 209880
Red ASCL1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Congenital central hypoventilation
Red ASCL1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.141	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital central hypoventilation
Amber ASCL1 in Central Hypoventilation Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Amber Phenotypes Central hypoventilation syndrome, congenital, MIM# 209880
Amber ASCL1 in Interstitial Lung Disease Level 2: Respiratory disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Amber Phenotypes Central hypoventilation syndrome, congenital, MIM# 209880
Amber ASCL1 in Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 1.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Amber Phenotypes Central hypoventilation syndrome, congenital, MIM# 209880