Severe early-onset obesity
Gene: ALMS1Comment on phenotypes: Previous phenotypes:
Truncal obesity (onset in childhood);Alstrom syndrome associated with obesity;Alstrom syndrome, 203800Created: 16 Mar 2021, 2:52 p.m. | Last Modified: 16 Mar 2021, 2:52 p.m.
Panel Version: 2.4
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: This is a confirmed DD gene for Alstrom syndrome.Created: 22 Jul 2016, 1:08 p.m.
Comment on list classification: alstrom syn assoc with obesityCreated: 7 Jul 2016, 7:35 a.m.
This does not, as stated, cause CONGENITAL obesity (few if any cases of genetic obesity are truly congenital)
Obesity is variable in Alstroms syndromeCreated: 8 Nov 2015, 6:03 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were changed from Truncal obesity (onset in childhood); Alstrom syndrome associated with obesity; Alstrom syndrome, 203800 to Alstrom syndrome, OMIM:203800
Source Expert list was added to ALMS1. Added phenotypes Alstrom syndrome, 203800 for gene: ALMS1
25/Oct/2016: Panel revised according to expert review and additional curation with internal discussion. Ready to be promoted to version 1.
Phenotypes for ALMS1 were set to Alstrom syndrome associated with obesity;Truncal obesity (onset in childhood)
This gene has been classified as Green List (High Evidence).
Phenotypes for ALMS1 were set to Alstrom syndrome associated with obesity
Phenotypes for ALMS1 were set to Alstroms syndrome associated with obesity.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for ALMS1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
ALMS1 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Emory Genetics Laboratory