SEC31A:Ensemblv90

SEC31 homolog A, COPII coat complex component
OMIM: 610257, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Amber SEC31A in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 1.1 Component of the following Super Panels: Neuromuscular Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Halperin-Birk syndrome, MIM# 618651
Amber SEC31A in Mendeliome Version 1.3802	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Amber Literature Phenotypes Halperin-Birk syndrome, MIM# 618651
Amber SEC31A in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.376	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Amber Literature Phenotypes Halperin-Birk syndrome, MIM# 618651
Amber SEC31A in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.309 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Phenotypes Halperin-Birk syndrome, MIM# 618651
Amber SEC31A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Amber Literature Phenotypes Halperin-Birk syndrome, MIM# 618651
Amber SEC31A in Hereditary Spastic Paraplegia Level 2: Neurology and neurodevelopmental disorders Version 1.130 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MIM# 618651 congenital neurodevelopmental syndrome spastic paraplegia multiple contractures profound developmental delay epilepsy failure to thrive
Amber SEC31A in Hereditary Spastic Paraplegia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Phenotypes Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MIM# 618651 congenital neurodevelopmental syndrome spastic paraplegia multiple contractures profound developmental delay epilepsy failure to thrive