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Intellectual disability - microarray and sequencing v4.61 PGM2L1 Achchuthan Shanmugasundram Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191 to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191
Intellectual disability - microarray and sequencing v4.60 PGM2L1 Achchuthan Shanmugasundram Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191 to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191
Intellectual disability - microarray and sequencing v4.61 PGM2L1 Achchuthan Shanmugasundram Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191 to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191
Intellectual disability - microarray and sequencing v4.60 PGM2L1 Achchuthan Shanmugasundram Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191 to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191
Intellectual disability - microarray and sequencing v4.60 PGM2L1 Achchuthan Shanmugasundram Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191 to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191
Intellectual disability - microarray and sequencing v4.60 PGM2L1 Achchuthan Shanmugasundram Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191 to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191
Intellectual disability - microarray and sequencing v4.60 PGM2L1 Achchuthan Shanmugasundram Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191 to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191
Intellectual disability - microarray and sequencing v4.60 PGM2L1 Achchuthan Shanmugasundram Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191
Intellectual disability - microarray and sequencing v4.59 PGM2L1 Achchuthan Shanmugasundram Tag gene-checked was removed from gene: PGM2L1.
Intellectual disability - microarray and sequencing v3.1564 PGM2L1 Arina Puzriakova Tag gene-checked tag was added to gene: PGM2L1.
Intellectual disability - microarray and sequencing v3.1519 PGM2L1 Ivone Leong Tag Q3_21_rating was removed from gene: PGM2L1.
Intellectual disability - microarray and sequencing v3.1519 PGM2L1 Sarah Leigh commented on gene: PGM2L1
Intellectual disability - microarray and sequencing v3.1519 PGM2L1 Ivone Leong Source Expert Review Green was added to PGM2L1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v3.1218 PGM2L1 Arina Puzriakova Tag Q3_21_rating tag was added to gene: PGM2L1.
Intellectual disability - microarray and sequencing v3.1218 PGM2L1 Arina Puzriakova Classified gene: PGM2L1 as Amber List (moderate evidence)
Intellectual disability - microarray and sequencing v3.1218 PGM2L1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. There is sufficient evidence to promote this gene to Green at the next GMS panel update (tagged).

Morava et al. 2021 (PMID: 33979636) identified 4 unrelated individuals with different biallelic protein-truncating variants in the PGM2L1 gene. All had severe GDD/ID. Other features that reach the threshold for inclusion on the relevant panels (observed in at least 3 cases) are epilepsy and early obesity (99th centile at ages 2 to 3). Some functional data included.
Intellectual disability - microarray and sequencing v3.1218 PGM2L1 Arina Puzriakova Gene: pgm2l1 has been classified as Amber List (Moderate Evidence).
Intellectual disability - microarray and sequencing v3.1125 PGM2L1 Zornitza Stark gene: PGM2L1 was added
gene: PGM2L1 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: PGM2L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGM2L1 were set to 33979636
Phenotypes for gene: PGM2L1 were set to Neurodevelopmental disorder
Review for gene: PGM2L1 was set to GREEN
Added comment: PMID: 33979636:
- Bi-allelic PTVs in 4 unrelated individuals. All four affected individuals had severe developmental and speech delay, dysmorphic facial features, ear anomalies, high arched palate, strabismus, hypotonia, and keratosis pilaris. Early obesity and seizures were present in three individuals.
- Studies on patient fibroblasts and cell lines indicated that PGM2L1 deficiency causes a decrease, but not a disappearance, of the sugar bisphosphates needed for the formation of NDP-sugars and that there is no evidence that this leads to a glycosylation defect.
Sources: Literature