SEL1L

SEL1L ERAD E3 ligase adaptor subunit
OMIM: 602329, Gene2Phenotype

2 panels

Panel

Reviews

Mode of inheritance

Details

Green SEL1L in Mendeliome

Version 1.2302

review

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature

Phenotypes

Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinaemia, MIM# 621068
Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies, MIM# 621067

Green SEL1L 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
Literature

Phenotypes

Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinaemia, MIM# 621068
Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies, MIM# 621067