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Congenital disorders of glycosylation v4.18 TUSC3 Arina Puzriakova Publications for gene: TUSC3 were set to 18455129; 18452889; 26864433; 27148795
Congenital disorders of glycosylation v4.17 TUSC3 Arina Puzriakova Phenotypes for gene: TUSC3 were changed from Mental retardation, autosomal recessive 7 611093; TUSC3-CDG (Disorders of protein N-glycosylation) to Intellectual developmental disorder, autosomal recessive 7, OMIM:611093
Congenital disorders of glycosylation v4.16 COG3 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Zornitza Stark, there are two unrelated cases reported with biallelic COG3 variants and hence this gene should be rated amber with current evidence.; to: Comment on list classification: As reviewed by Zornitza Stark, there are two unrelated families reported with biallelic COG3 variants and hence this gene should be rated amber with current evidence.
Congenital disorders of glycosylation v4.16 COG3 Achchuthan Shanmugasundram Classified gene: COG3 as Amber List (moderate evidence)
Congenital disorders of glycosylation v4.16 COG3 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there are two unrelated cases reported with biallelic COG3 variants and hence this gene should be rated amber with current evidence.
Congenital disorders of glycosylation v4.16 COG3 Achchuthan Shanmugasundram Gene: cog3 has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v4.15 COG3 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #620546), but not yet in Gene2Phenotype.
Congenital disorders of glycosylation v4.15 COG3 Achchuthan Shanmugasundram Phenotypes for gene: COG3 were changed from Congenital disorder of glycosylation, type IIbb, OMIM:620546 to Congenital disorder of glycosylation, type IIbb, OMIM:620546
Congenital disorders of glycosylation v4.14 COG3 Achchuthan Shanmugasundram Phenotypes for gene: COG3 were changed from Congenital disorder of glycosylation, type IIbb, MIM# 620546 to Congenital disorder of glycosylation, type IIbb, OMIM:620546
Congenital disorders of glycosylation v4.13 COG3 Achchuthan Shanmugasundram reviewed gene: COG3: Rating: AMBER; Mode of pathogenicity: None; Publications: 37711075; Phenotypes: Congenital disorder of glycosylation, type IIbb, OMIM:620546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital disorders of glycosylation v4.13 PIGM Sarah Leigh Tag non-coding-known-pathogenic tag was added to gene: PIGM.
Tag Q4_23_promote_green tag was added to gene: PIGM.
Congenital disorders of glycosylation v4.13 PIGM Sarah Leigh changed review comment from: A single PIGM variant (NM_145167.2(PIGM):c.-270C>G) has been associated with Glycosylphosphatidylinositol deficiency, (OMIM:610293) and as limited Gen2Phen gene for the same condition.
To date, this variant has only been reported in people of Arab or Turkish descent. Microsatellite- and SNP-based haplotypes encompassing PIGM reported in PMID:19168132, suggested that a founder effect in the two families (one Arab and one Turkish) was unlikely. However, subsequent occurrences of the variant in two additional unrelated Arab families (PMID: 31445883) might suggest that this variant is confined within the Middle Eastern populations.
Functional studies have shown that this variant reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol anchor (PMID: 16767100).; to: A single PIGM variant (NM_145167.2(PIGM):c.-270C>G)(rs587776528) has been associated with Glycosylphosphatidylinositol deficiency, (OMIM:610293) and as limited Gen2Phen gene for the same condition.
To date, this variant has only been reported in people of Arab or Turkish descent. Microsatellite- and SNP-based haplotypes encompassing PIGM reported in PMID:19168132, suggested that a founder effect in the two families (one Arab and one Turkish) was unlikely. However, subsequent occurrences of the variant in two additional unrelated Arab families (PMID: 31445883) might suggest that this variant is confined within the Middle Eastern populations.
Functional studies have shown that this variant reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol anchor (PMID: 16767100).
Congenital disorders of glycosylation v4.13 PIGM Sarah Leigh Classified gene: PIGM as Amber List (moderate evidence)
Congenital disorders of glycosylation v4.13 PIGM Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital disorders of glycosylation v4.13 PIGM Sarah Leigh Gene: pigm has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v4.12 PIGM Sarah Leigh edited their review of gene: PIGM: Added comment: A single PIGM variant (NM_145167.2(PIGM):c.-270C>G) has been associated with Glycosylphosphatidylinositol deficiency, (OMIM:610293) and as limited Gen2Phen gene for the same condition.
To date, this variant has only been reported in people of Arab or Turkish descent. Microsatellite- and SNP-based haplotypes encompassing PIGM reported in PMID:19168132, suggested that a founder effect in the two families (one Arab and one Turkish) was unlikely. However, subsequent occurrences of the variant in two additional unrelated Arab families (PMID: 31445883) might suggest that this variant is confined within the Middle Eastern populations.
Functional studies have shown that this variant reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol anchor (PMID: 16767100).; Changed rating: GREEN
Congenital disorders of glycosylation v4.12 PIGM Sarah Leigh Publications for gene: PIGM were set to 27604308; 16767100; 25293775
Congenital disorders of glycosylation v4.11 PIGM Sarah Leigh Added comment: Comment on phenotypes: Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency;Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
Congenital disorders of glycosylation v4.11 PIGM Sarah Leigh Phenotypes for gene: PIGM were changed from Glycosylphosphatidylinositol deficiency, 610293; Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency; Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation to Glycosylphosphatidylinositol deficiency, OMIM:610293
Congenital disorders of glycosylation v4.10 SEC23B Arina Puzriakova Phenotypes for gene: SEC23B were changed from Dyserythropoietic anemia, congenital, type II 224100; COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) to Dyserythropoietic anemia, congenital, type II, OMIM:224100; COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)
Congenital disorders of glycosylation v4.9 SEC23B Arina Puzriakova Tag Q4_23_MOI tag was added to gene: SEC23B.
Congenital disorders of glycosylation v4.9 SEC23B Arina Puzriakova Added comment: Comment on mode of inheritance: There is limited evidence linking this gene with Cowden syndrome (monoallelic variants). Only one family has been reported to date (PMID:26522472). This gene:disease association is provisional in OMIM, 'limited' disease confidence category in G2P and is not listed in ClinGen (whereas CDAII is). Biallelic phenotype remains relevant to this panel (PMID: 35163229).

On this basis, the MOI should be updated from 'Both mono- and biallelic' to 'Biallelic' only at the next GMS panel update.
Congenital disorders of glycosylation v4.9 SEC23B Arina Puzriakova Mode of inheritance for gene: SEC23B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital disorders of glycosylation v4.8 SEC23B Arina Puzriakova Publications for gene: SEC23B were set to 22208203
Congenital disorders of glycosylation v4.7 MAN2B2 Achchuthan Shanmugasundram Classified gene: MAN2B2 as Amber List (moderate evidence)
Congenital disorders of glycosylation v4.7 MAN2B2 Achchuthan Shanmugasundram Gene: man2b2 has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v4.6 MAN2B2 Achchuthan Shanmugasundram gene: MAN2B2 was added
gene: MAN2B2 was added to Congenital disorders of glycosylation. Sources: Literature
Mode of inheritance for gene: MAN2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2B2 were set to 31775018; 35637269
Phenotypes for gene: MAN2B2 were set to congenital disorder of glycosylation, MONDO:0015286
Review for gene: MAN2B2 was set to AMBER
Added comment: There are two different cases reported with biallelic MAN2B2 variants and congenital disorders of glycosylation. The patient reported in PMID:31775018 with homozygous p.Asp38Asn variant presented with immune deficiency, dysmorphic facial features, coagulopathy, and severe developmental delay. Although the patient reported in PMID:35637269 with compound heterozygous variants (p.Ser147del and p.Glu790Lys) had severe developmental delay, dysmorphic facial features as in the previous case, this patient had new features including cleft palate and hypospadias with no immune deficiency.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Congenital disorders of glycosylation v4.3 COG3 Zornitza Stark gene: COG3 was added
gene: COG3 was added to Congenital disorders of glycosylation. Sources: Literature
Mode of inheritance for gene: COG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG3 were set to 37711075
Phenotypes for gene: COG3 were set to Congenital disorder of glycosylation, type IIbb, MIM# 620546
Review for gene: COG3 was set to AMBER
Added comment: Two COG3 homozygous missense variants in four individuals from two unrelated consanguineous families. Clinical phenotypes of affected individuals include global developmental delay, severe intellectual disability, microcephaly, epilepsy, facial dysmorphism, and variable neurological findings.
Sources: Literature
Congenital disorders of glycosylation v4.3 ST3GAL3 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: ST3GAL3.
Congenital disorders of glycosylation v4.3 ST3GAL3 Arina Puzriakova edited their review of gene: ST3GAL3: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Congenital disorders of glycosylation v4.2 ST3GAL3 Achchuthan Shanmugasundram Source Expert Review Green was added to ST3GAL3.
Source NHS GMS was added to ST3GAL3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v4.1 Arina Puzriakova Panel version 4.0 has been signed off on 2023-03-22
Congenital disorders of glycosylation v4.0 Arina Puzriakova promoted panel to version 4.0
Congenital disorders of glycosylation v3.5 CAMLG Achchuthan Shanmugasundram changed review comment from: Comment on classification of gene: This gene should be rated red as there is only one patient reported so far.

PMID:35262690 reported one patient with homozygous c.633 + 4A>G splice variant in CAMLG presented with a predominantly neurological phenotype with psychomotor disability, hypotonia, epilepsy and structural brain abnormalities. Biochemically, a combined O-linked and type II N-linked glycosylation defect was found.

This gene has already been associated with phenotype in OMIM (MIM #620201), but not in Gene2Phenotype.
Sources: Literature; to: Comment on classification of gene: This gene should be rated red as there is only one patient reported so far.

PMID:35262690 reported one patient with homozygous c.633 + 4A>G splice variant in CAMLG presented with a predominantly neurological phenotype with psychomotor disability, hypotonia, epilepsy and structural brain abnormalities. Biochemically, a combined O-linked and type II N-linked glycosylation defect was found.

This gene has already been associated with phenotype in OMIM (MIM #620201), but not in Gene2Phenotype.
Sources: Literature
Congenital disorders of glycosylation v3.5 CAMLG Achchuthan Shanmugasundram changed review comment from: Comment on classification of gene: This gene should be rated red as there is only one patient reported so far.

PMID:35262690 reported one patient with homozygous c.633 + 4A>G splice variant in CAMLG presented with a predominantly neurological phenotype with psychomotor disability, hypotonia, epilepsy and structural brain abnormalities. Biochemically, a combined O-linked and type II N-linked glycosylation defect was found.

This gene has already been associated with phenotype in OMIM (MIM #620201), but not in Gene2Phenotype.
Sources: Literature; to: Comment on classification of gene: This gene should be rated red as there is only one patient reported so far.

PMID:35262690 reported one patient with homozygous c.633 + 4A>G splice variant in CAMLG presented with a predominantly neurological phenotype with psychomotor disability, hypotonia, epilepsy and structural brain abnormalities. Biochemically, a combined O-linked and type II N-linked glycosylation defect was found.

This gene has already been associated with phenotype in OMIM (MIM #620201), but not in Gene2Phenotype.
Sources: Literature
Congenital disorders of glycosylation v3.5 CAMLG Achchuthan Shanmugasundram gene: CAMLG was added
gene: CAMLG was added to Congenital disorders of glycosylation. Sources: Literature
Mode of inheritance for gene: CAMLG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAMLG were set to 35262690
Phenotypes for gene: CAMLG were set to Congenital disorder of glycosylation, type IIz, OMIM:620201
Review for gene: CAMLG was set to RED
Added comment: Comment on classification of gene: This gene should be rated red as there is only one patient reported so far.

PMID:35262690 reported one patient with homozygous c.633 + 4A>G splice variant in CAMLG presented with a predominantly neurological phenotype with psychomotor disability, hypotonia, epilepsy and structural brain abnormalities. Biochemically, a combined O-linked and type II N-linked glycosylation defect was found.

This gene has already been associated with phenotype in OMIM (MIM #620201), but not in Gene2Phenotype.
Sources: Literature
Congenital disorders of glycosylation v3.4 TMEM199 Achchuthan Shanmugasundram Tag Q3_21_rating was removed from gene: TMEM199.
Congenital disorders of glycosylation v3.4 SLC35A2 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: SLC35A2.
Congenital disorders of glycosylation v3.4 POMK Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: POMK.
Congenital disorders of glycosylation v3.4 PIGW Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: PIGW.
Congenital disorders of glycosylation v3.4 G6PC3 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: G6PC3.
Congenital disorders of glycosylation v3.4 EOGT Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: EOGT.
Congenital disorders of glycosylation v3.4 DPM2 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: DPM2.
Congenital disorders of glycosylation v3.4 B4GALNT1 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: B4GALNT1.
Congenital disorders of glycosylation v3.4 MAGT1 Achchuthan Shanmugasundram Tag Q2_21_phenotype was removed from gene: MAGT1.
Tag Q2_22_rating was removed from gene: MAGT1.
Tag Q2_22_expert_review was removed from gene: MAGT1.
Congenital disorders of glycosylation v3.4 GORAB Achchuthan Shanmugasundram Tag Q2_21_phenotype was removed from gene: GORAB.
Tag Q2_22_rating was removed from gene: GORAB.
Tag Q2_22_expert_review was removed from gene: GORAB.
Congenital disorders of glycosylation v3.4 STT3A Achchuthan Shanmugasundram Tag Q3_22_MOI was removed from gene: STT3A.
Congenital disorders of glycosylation v3.4 SLC37A4 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: SLC37A4.
Congenital disorders of glycosylation v3.4 EDEM3 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: EDEM3.
Congenital disorders of glycosylation v3.4 TMEM199 Achchuthan Shanmugasundram reviewed gene: TMEM199: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital disorders of glycosylation v3.4 SLC35A2 Achchuthan Shanmugasundram reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital disorders of glycosylation v3.4 POMK Achchuthan Shanmugasundram reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital disorders of glycosylation v3.4 PIGW Achchuthan Shanmugasundram reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital disorders of glycosylation v3.4 G6PC3 Achchuthan Shanmugasundram reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital disorders of glycosylation v3.4 EOGT Achchuthan Shanmugasundram reviewed gene: EOGT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital disorders of glycosylation v3.4 DPM2 Achchuthan Shanmugasundram reviewed gene: DPM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital disorders of glycosylation v3.4 B4GALNT1 Achchuthan Shanmugasundram reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital disorders of glycosylation v3.4 MAGT1 Achchuthan Shanmugasundram reviewed gene: MAGT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital disorders of glycosylation v3.4 GORAB Achchuthan Shanmugasundram reviewed gene: GORAB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital disorders of glycosylation v3.4 STT3A Achchuthan Shanmugasundram commented on gene: STT3A
Congenital disorders of glycosylation v3.4 SLC37A4 Achchuthan Shanmugasundram reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital disorders of glycosylation v3.4 EDEM3 Achchuthan Shanmugasundram reviewed gene: EDEM3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital disorders of glycosylation v3.3 TMEM199 Achchuthan Shanmugasundram Source Expert Review Green was added to TMEM199.
Source NHS GMS was added to TMEM199.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v3.3 STT3A Achchuthan Shanmugasundram Source NHS GMS was added to STT3A.
Mode of inheritance for gene STT3A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital disorders of glycosylation v3.3 SLC37A4 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC37A4.
Source NHS GMS was added to SLC37A4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v3.3 SLC35A2 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC35A2.
Source NHS GMS was added to SLC35A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v3.3 POMK Achchuthan Shanmugasundram Source Expert Review Green was added to POMK.
Source NHS GMS was added to POMK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v3.3 PIGW Achchuthan Shanmugasundram Source Expert Review Green was added to PIGW.
Source NHS GMS was added to PIGW.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v3.3 MAGT1 Achchuthan Shanmugasundram Source Expert Review Green was added to MAGT1.
Source NHS GMS was added to MAGT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v3.3 GORAB Achchuthan Shanmugasundram Source Expert Review Green was added to GORAB.
Source NHS GMS was added to GORAB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v3.3 G6PC3 Achchuthan Shanmugasundram Source Expert Review Green was added to G6PC3.
Source NHS GMS was added to G6PC3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v3.3 EOGT Achchuthan Shanmugasundram Source Expert Review Green was added to EOGT.
Source NHS GMS was added to EOGT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v3.3 EDEM3 Achchuthan Shanmugasundram Source Expert Review Green was added to EDEM3.
Source NHS GMS was added to EDEM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v3.3 DPM2 Achchuthan Shanmugasundram Source Expert Review Green was added to DPM2.
Source NHS GMS was added to DPM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v3.3 B4GALNT1 Achchuthan Shanmugasundram Source Expert Review Green was added to B4GALNT1.
Source NHS GMS was added to B4GALNT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v3.2 ST3GAL3 Arina Puzriakova Classified gene: ST3GAL3 as Amber List (moderate evidence)
Congenital disorders of glycosylation v3.2 ST3GAL3 Arina Puzriakova Added comment: Comment on list classification: This gene should be promoted to Green at the next GMS panel update. Sufficient cases (>3) to support a gene-disease association (PMID: 21907012; 23252400; 31584066). This gene is also green on the IEM panel (v3.0) and as such should be reflected on this panel.

ST3GAL3 encodes the β-galactoside-α2,3-sialyltransferase-III (ST3Gal-III), which in humans predominantly forms the sialyl Lewis a (sLe a) epitope on glycoproteins.
Congenital disorders of glycosylation v3.2 ST3GAL3 Arina Puzriakova Gene: st3gal3 has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v3.1 ST3GAL3 Arina Puzriakova Tag Q1_23_promote_green tag was added to gene: ST3GAL3.
Congenital disorders of glycosylation v3.1 Catherine Snow Panel version 3.0 has been signed off on 2022-11-30
Congenital disorders of glycosylation v3.0 Catherine Snow promoted panel to version 3.0
Congenital disorders of glycosylation v2.94 ST3GAL3 Sarah Leigh Publications for gene: ST3GAL3 were set to 21907012; 23252400
Congenital disorders of glycosylation v2.93 ST3GAL3 Sarah Leigh Phenotypes for gene: ST3GAL3 were changed from Epileptic encephalopathy, early infantile, 15 615006; ST3GAL3-CDG (Disorders of protein N-glycosylation) to Developmental and epileptic encephalopathy 15, OMIM:615006; developmental and epileptic encephalopathy, 15, MONDO:0014003; Intellectual developmental disorder, autosomal recessive 12, OMIM:611090; intellectual disability, autosomal recessive 12, MONDO:0012612
Congenital disorders of glycosylation v2.92 EXT1 Arina Puzriakova commented on gene: EXT1: The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.
Congenital disorders of glycosylation v2.91 STT3A Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from biallelic to both mono- and biallelic at the next GMS panel update as per review by Zornitza Stark. Both MOIs are also now recognised in OMIM.
Congenital disorders of glycosylation v2.91 STT3A Arina Puzriakova Mode of inheritance for gene: STT3A was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Congenital disorders of glycosylation v2.90 STT3A Arina Puzriakova Phenotypes for gene: STT3A were changed from Congenital disorder of glycosylation, type Iw, 615596 to Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714; Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596
Congenital disorders of glycosylation v2.89 STT3A Arina Puzriakova Publications for gene: STT3A were set to 23842455; 28424003; 30701557
Congenital disorders of glycosylation v2.88 STT3A Arina Puzriakova Tag Q3_22_MOI tag was added to gene: STT3A.
Congenital disorders of glycosylation v2.88 OSTC Arina Puzriakova Classified gene: OSTC as Red List (low evidence)
Congenital disorders of glycosylation v2.88 OSTC Arina Puzriakova Added comment: Comment on list classification: Single case reported to date, as per review by Zornitza Stark. Rating Red until further cases emerge.
Congenital disorders of glycosylation v2.88 OSTC Arina Puzriakova Gene: ostc has been classified as Red List (Low Evidence).
Congenital disorders of glycosylation v2.87 EDEM3 Arina Puzriakova Tag Q3_22_rating tag was added to gene: EDEM3.
Congenital disorders of glycosylation v2.87 EDEM3 Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.

12 individuals from 7 unrelated families identified by Polla et al. 2021 (PMID: 34143952) with various biallelic variants in the EDEM3 gene. Clinical characteristics were predominant for DD (12/12), ID (6/7), hypotonia (6/12) and facial dysmorphisms.; to: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.

EDEM3 is associated with a relevant phenotype in OMIM (MIM# 619493) and G2P with a 'strong' confidence level assertion.

12 individuals from 7 unrelated families identified by Polla et al. 2021 (PMID: 34143952) with various biallelic variants in the EDEM3 gene. Clinical characteristics were predominant for DD (12/12), ID (6/7), hypotonia (6/12) and facial dysmorphisms.
Congenital disorders of glycosylation v2.87 EDEM3 Arina Puzriakova Classified gene: EDEM3 as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.87 EDEM3 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.

12 individuals from 7 unrelated families identified by Polla et al. 2021 (PMID: 34143952) with various biallelic variants in the EDEM3 gene. Clinical characteristics were predominant for DD (12/12), ID (6/7), hypotonia (6/12) and facial dysmorphisms.
Congenital disorders of glycosylation v2.87 EDEM3 Arina Puzriakova Gene: edem3 has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.86 EDEM3 Arina Puzriakova Phenotypes for gene: EDEM3 were changed from Congenital disorder of glycosylation to Congenital disorder of glycosylation, type 2V, OMIM:619493
Congenital disorders of glycosylation v2.85 SLC37A4 Arina Puzriakova Publications for gene: SLC37A4 were set to 32884905
Congenital disorders of glycosylation v2.84 SLC37A4 Arina Puzriakova Classified gene: SLC37A4 as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.84 SLC37A4 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Monoallelic variants in SLC37A4 are linked to a congenital disorder of glycosylation in OMIM (MIM# 619525) and G2P (definitive disease confidence).

At least 9 individuals from 6 unrelated families have been reported with the same heterozygous variant, c.1267C>T (p.Arg423∗), in SLC37A4. Affected subjects display a metabolic disorder characterised by liver dysfunction, coagulation deficiencies (but no signs of bleeding detected in most), and profound abnormalities in N-glycosylation of serum specific proteins.
Congenital disorders of glycosylation v2.84 SLC37A4 Arina Puzriakova Gene: slc37a4 has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.83 SLC37A4 Arina Puzriakova Phenotypes for gene: SLC37A4 were changed from Congenital disorder of glycosylation to Congenital disorder of glycosylation, type IIw, OMIM:619525
Congenital disorders of glycosylation v2.82 SLC37A4 Arina Puzriakova Tag Q3_22_rating tag was added to gene: SLC37A4.
Congenital disorders of glycosylation v2.82 GORAB Sarah Leigh Tag Q2_22_rating tag was added to gene: GORAB.
Tag Q2_22_expert_review tag was added to gene: GORAB.
Congenital disorders of glycosylation v2.82 MAGT1 Sarah Leigh Tag Q2_22_rating tag was added to gene: MAGT1.
Congenital disorders of glycosylation v2.82 MAGT1 Sarah Leigh Tag Q2_22_expert_review tag was added to gene: MAGT1.
Congenital disorders of glycosylation v2.82 EXT1 Arina Puzriakova commented on gene: EXT1
Congenital disorders of glycosylation v2.81 EXT1 Arina Puzriakova Mode of inheritance for gene EXT1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital disorders of glycosylation v2.80 GALNT2 Sarah Leigh Tag for-review was removed from gene: GALNT2.
Congenital disorders of glycosylation v2.80 GALNT2 Sarah Leigh changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Congenital disorders of glycosylation v2.80 CSGALNACT1 Sarah Leigh Tag for-review was removed from gene: CSGALNACT1.
Congenital disorders of glycosylation v2.80 CSGALNACT1 Sarah Leigh changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Congenital disorders of glycosylation v2.80 PIGS Sarah Leigh changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Congenital disorders of glycosylation v2.80 PIGS Sarah Leigh Tag for-review was removed from gene: PIGS.
Congenital disorders of glycosylation v2.80 ALG14 Sarah Leigh changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Congenital disorders of glycosylation v2.80 ALG14 Sarah Leigh Tag for-review was removed from gene: ALG14.
Congenital disorders of glycosylation v2.80 STT3A Sarah Leigh changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Congenital disorders of glycosylation v2.80 STT3A Sarah Leigh Tag for-review was removed from gene: STT3A.
Congenital disorders of glycosylation v2.80 GMPPA Sarah Leigh changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Congenital disorders of glycosylation v2.80 GMPPA Sarah Leigh Tag for-review was removed from gene: GMPPA.
Congenital disorders of glycosylation v2.80 GMPPA Sarah Leigh commented on gene: GMPPA: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Congenital disorders of glycosylation v2.80 CSGALNACT1 Sarah Leigh commented on gene: CSGALNACT1
Congenital disorders of glycosylation v2.80 PIGS Sarah Leigh commented on gene: PIGS: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Congenital disorders of glycosylation v2.80 GALNT2 Sarah Leigh commented on gene: GALNT2: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Congenital disorders of glycosylation v2.80 ALG14 Sarah Leigh commented on gene: ALG14: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Congenital disorders of glycosylation v2.80 STT3A Sarah Leigh commented on gene: STT3A: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Congenital disorders of glycosylation v2.79 GMPPA Sarah Leigh Source Expert Review Green was added to GMPPA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v2.79 CSGALNACT1 Sarah Leigh Source Expert Review Green was added to CSGALNACT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v2.79 PIGS Sarah Leigh Source Expert Review Green was added to PIGS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v2.79 GALNT2 Sarah Leigh Source Expert Review Green was added to GALNT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v2.79 ALG14 Sarah Leigh Source Expert Review Green was added to ALG14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v2.79 STT3A Sarah Leigh Source Expert Review Green was added to STT3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v2.78 TMEM199 Ivone Leong Tag Q3_21_rating tag was added to gene: TMEM199.
Congenital disorders of glycosylation v2.78 STT3A Zornitza Stark changed review comment from: Three families reported to date.; to: Bi-allelic variants: Three families reported to date.
Congenital disorders of glycosylation v2.78 STT3A Zornitza Stark edited their review of gene: STT3A: Added comment: New MOI

PMID: 34653363 - 16 patients from 9 families with new AD mode of inheritance (both de novo and inherited). All variants were missense within/around acritical active/catalytic sites. Patients aged 3-55yo, with children noted to be "healthy" until reaching young adulthood
Clinical features include dysmorphic features, macrocephaly (6/16), mild-moderate ID/DD (10/16), short stature (8/16), skeletal abnormalities (10/16), muscle cramps (7/16).
Functional studies verifies AR disease is caused by LOF variants, whereas the AD variants cause DN proven by cotransfection in WT yeast resulting in impaired glycosylation (protein levels unchanged).; Changed publications to: 23842455, 30701557, 28424003, 34653363; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital disorders of glycosylation v2.78 OSTC Zornitza Stark gene: OSTC was added
gene: OSTC was added to Congenital disorders of glycosylation. Sources: Literature
Mode of inheritance for gene: OSTC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OSTC were set to 32267060
Phenotypes for gene: OSTC were set to Oligosaccharyltransferase complex-congenital disorders of glycosylation
Review for gene: OSTC was set to RED
Added comment: A patient with microcephaly, dysmorphic facies, congenital heart defect, focal epilepsy, infantile spasms, skeletal dysplasia, and a type 1 serum transferrin isoelectrofocusing due to a novel CDG caused by a homozygous variant in the oligosaccharyltransferase complex noncatalytic subunit (OSTC) gene involved in glycosylation and confirmed by serum transferrin electrophoresis.
Patient was homozygous for a canonical splice variant (c.431 + 1G > A), mRNA from patient's fibroblast showed mRNA transcript reduced 80-90%/aberrant splicing - predicting NMD.
GnomAD - 10 hets, 0 hom
Sources: Literature
Congenital disorders of glycosylation v2.78 DHDDS Arina Puzriakova Phenotypes for gene: DHDDS were changed from Retinitis pigmentosa 59 613861; ?Congenital disorder of glycosylation, type 1bb 613861 to Retinitis pigmentosa 59, OMIM:613861; ?Congenital disorder of glycosylation, type 1bb, OMIM:613861
Congenital disorders of glycosylation v2.77 ALG10 Sarah Leigh commented on gene: ALG10: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. At least one terminating variant reported.
Congenital disorders of glycosylation v2.77 ALG10 Sarah Leigh Classified gene: ALG10 as Red List (low evidence)
Congenital disorders of glycosylation v2.77 ALG10 Sarah Leigh Added comment: Comment on list classification: Homozygous null ALG10 variant (NM_032834.4) c.1170_1171delAA (p.Lys391Valfs∗35) was found in a Turkish female, with frequent myoclonus (reported at 13 years), rare tonic-clonic seizure, ataxia, mild cognitive dysfunction (reported at 16 years) and scoliosis (PMID 33798445). PMID 33798445 also reports that a yeast alg10 deletion strain was used to re-express human wild-type and the variant ALG10 proteins for functional complementation. They found that while the yeast or human wild type strains resulted in mature reported protein, the variant strain resulted in hypo-glycosylated reporter protein.
Congenital disorders of glycosylation v2.77 ALG10 Sarah Leigh Gene: alg10 has been classified as Red List (Low Evidence).
Congenital disorders of glycosylation v2.76 ALG10 Zornitza Stark gene: ALG10 was added
gene: ALG10 was added to Congenital disorders of glycosylation. Sources: Literature
Mode of inheritance for gene: ALG10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG10 were set to 33798445
Phenotypes for gene: ALG10 were set to Progressive myoclonus epilepsy; CDG
Review for gene: ALG10 was set to RED
Added comment: Single individual with homozygous variant identified in a progressive myoclonus epilepsy cohort.
Sources: Literature
Congenital disorders of glycosylation v2.76 GMPPB Sarah Leigh Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 615351; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM:615350; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0014140; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 OMIM:615351; muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MONDO:0014141; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352; autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142
Congenital disorders of glycosylation v2.75 GMPPB Sarah Leigh Publications for gene: GMPPB were set to 23768512
Congenital disorders of glycosylation v2.74 EDEM3 Zornitza Stark gene: EDEM3 was added
gene: EDEM3 was added to Congenital disorders of glycosylation. Sources: Literature
Mode of inheritance for gene: EDEM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EDEM3 were set to 34143952
Phenotypes for gene: EDEM3 were set to Congenital disorder of glycosylation
Review for gene: EDEM3 was set to GREEN
gene: EDEM3 was marked as current diagnostic
Added comment: PMID: 34143952: 7 families (11 individuals) with 6x PTV and 2x missense variants with neurodevelopmental delay and variable facial dysmorphisms. The unaffected parents were all heterozygous carriers. Functional studies show loss of EDEM3 enzymatic activity.
Sources: Literature
Congenital disorders of glycosylation v2.74 B4GALNT1 Arina Puzriakova Phenotypes for gene: B4GALNT1 were changed from Spastic paraplegia 26, autosomal recessive OMIM:609195; hereditary spastic paraplegia 26 MONDO:0012213 to Spastic paraplegia 26, autosomal recessive, OMIM:609195; Hereditary spastic paraplegia 26, MONDO:0012213
Congenital disorders of glycosylation v2.73 SSR3 Arina Puzriakova Classified gene: SSR3 as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.73 SSR3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. SSR3 is currently not associated with any phenotype in OMIM or G2P. Only a single case reported to date (PMID: 30945312); however, supported by functional data. Variants in other TRAP complex subunits (e.g. SSR4) have been shown to cause a CDG.

Rating Amber, awaiting further cases prior to inclusion as diagnostic-grade.
Congenital disorders of glycosylation v2.73 SSR3 Arina Puzriakova Gene: ssr3 has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.72 SSR3 Arina Puzriakova Phenotypes for gene: SSR3 were changed from Congenital disorder of glycosylation, type Iu, MIM#615042 to Congenital disorder of glycosylation
Congenital disorders of glycosylation v2.71 DPM1 Arina Puzriakova Phenotypes for gene: DPM1 were changed from Congenital disorder of glycosylation, type Ie 608799; GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) to Congenital disorder of glycosylation, type Ie, OMIM:608799; GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Congenital disorders of glycosylation v2.70 SLC37A4 Zornitza Stark edited their review of gene: SLC37A4: Changed rating: GREEN
Congenital disorders of glycosylation v2.70 SLC37A4 Zornitza Stark edited their review of gene: SLC37A4: Added comment: PMID 33964207: 7 patients from 4 families, additional to the two reported previously, described with the same recurrent c.1267C>T (p.R423*) variant with liver dysfunction multifactorial coagulation deficiency and cardiac issues. Serum samples from affected individuals showed profound accumulation of both high mannose and hybrid type N-glycans. Hepatoma cell-line studies support the pathogenicity of the variant.; Changed publications to: 32884905, 33964207
Congenital disorders of glycosylation v2.70 DPM2 Arina Puzriakova Phenotypes for gene: DPM2 were changed from Congenital disorder of glycosylation, type Iu 615042 to Congenital disorder of glycosylation, type Iu, OMIM:615042
Congenital disorders of glycosylation v2.69 DPM2 Arina Puzriakova Publications for gene: DPM2 were set to 23109149
Congenital disorders of glycosylation v2.68 DPM2 Arina Puzriakova Classified gene: DPM2 as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.68 DPM2 Arina Puzriakova Added comment: Comment on list classification: Associated with relevant phenotype in OMIM (MIM# 615042). Sufficient number of unrelated cases (3) with DPM2-CDG to rate Green at the next GMS panel update (PMIDs: 23109149; 33129689)
Congenital disorders of glycosylation v2.68 DPM2 Arina Puzriakova Gene: dpm2 has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.67 DPM2 Arina Puzriakova Tag Q2_21_rating tag was added to gene: DPM2.
Congenital disorders of glycosylation v2.67 B4GALT1 Arina Puzriakova Phenotypes for gene: B4GALT1 were changed from Congenital disorder of glycosylation, type IId 607091; Beta-1,4-galactosyltransferase 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways) to Congenital disorder of glycosylation, type IId, OMIM:607091
Congenital disorders of glycosylation v2.66 SSR4 Sarah Leigh commented on gene: SSR4: GlyGen link updated April 2021: https://www.glygen.org/protein/P51571-1#Disease
Congenital disorders of glycosylation v2.66 SLC39A8 Sarah Leigh commented on gene: SLC39A8: GlyGen link updated April 2021: https://www.glygen.org/protein/Q9C0K1-1#Disease
Congenital disorders of glycosylation v2.66 POMT2 Sarah Leigh commented on gene: POMT2: GlyGen link updated April 2021: https://www.glygen.org/protein/Q9UKY4-1#Disease
Congenital disorders of glycosylation v2.66 POMGNT1 Sarah Leigh commented on gene: POMGNT1: GlyGen link updated April 2021: https://www.glygen.org/protein/Q8WZA1-1#Disease
Congenital disorders of glycosylation v2.66 POMT1 Sarah Leigh commented on gene: POMT1: GlyGen link updated April 2021: https://www.glygen.org/protein/Q9Y6A1-1#Disease
Congenital disorders of glycosylation v2.66 PIGL Sarah Leigh commented on gene: PIGL: GlyGen link updated April 2021: https://www.glygen.org/protein/Q9Y2B2-1#Disease
Congenital disorders of glycosylation v2.66 PIGO Sarah Leigh commented on gene: PIGO: GlyGen link updated April 2021: https://www.glygen.org/protein/Q8TEQ8-1#Disease
Congenital disorders of glycosylation v2.66 PIGA Sarah Leigh commented on gene: PIGA: GlyGen link updated April 2021: https://www.glygen.org/protein/P37287-1#Disease
Congenital disorders of glycosylation v2.66 PGM1 Sarah Leigh commented on gene: PGM1: GlyGen link updated April 2021: https://www.glygen.org/protein/P36871-1#Disease
Congenital disorders of glycosylation v2.66 PGAP2 Sarah Leigh commented on gene: PGAP2: GlyGen link updated April 2021: https://www.glygen.org/protein/Q9UHJ9-1#Disease
Congenital disorders of glycosylation v2.66 LARGE1 Sarah Leigh commented on gene: LARGE1: GlyGen link updated April 2021: https://www.glygen.org/protein/O95461-1#Disease
Congenital disorders of glycosylation v2.66 FUT8 Sarah Leigh commented on gene: FUT8
Congenital disorders of glycosylation v2.66 FKTN Sarah Leigh commented on gene: FKTN: GlyGen link updated April 2021: https://www.glygen.org/protein/O75072-1#Disease
Congenital disorders of glycosylation v2.66 FKRP Sarah Leigh commented on gene: FKRP: GlyGen link updated April 2021: https://www.glygen.org/protein/Q9H9S5-1#Disease
Congenital disorders of glycosylation v2.66 EXT2 Sarah Leigh commented on gene: EXT2: GlyGen link updated April 2021: https://www.glygen.org/protein/Q93063-1#Disease
Congenital disorders of glycosylation v2.66 EXT1 Sarah Leigh changed review comment from: GlyGen link: https://www.glygen.org/protein/Q16394-1#Disease; to: GlyGen link updated April 2021: https://www.glygen.org/protein/Q16394-1#Disease
Congenital disorders of glycosylation v2.66 EXT1 Sarah Leigh changed review comment from: Comment on phenotypes: Also associated with Chondrosarcoma 215300 ; to: Comment on phenotypes: Also associated with Chondrosarcoma 215300
Congenital disorders of glycosylation v2.66 EXT1 Sarah Leigh commented on gene: EXT1: GlyGen link: https://www.glygen.org/protein/Q16394-1#Disease
Congenital disorders of glycosylation v2.66 DPAGT1 Sarah Leigh commented on gene: DPAGT1: GlyGen link updated April 2021: https://www.glygen.org/protein/Q9H3H5-1#Disease
Congenital disorders of glycosylation v2.66 CCDC115 Sarah Leigh commented on gene: CCDC115: GlyGen link updated April 2021: https://www.glygen.org/protein/Q96NT0-1#Disease
Congenital disorders of glycosylation v2.66 ATP6V0A2 Sarah Leigh commented on gene: ATP6V0A2: GlyGen link updated April 2021: https://www.glygen.org/protein/Q9Y487-1#Disease
Congenital disorders of glycosylation v2.66 TMEM165 Sarah Leigh commented on gene: TMEM165: GlyGen link updated April 2021: https://www.glygen.org/protein/Q9HC07-1#Disease
Congenital disorders of glycosylation v2.66 SLC35D1 Sarah Leigh Added comment: Comment on phenotypes: 9.2.3. O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)
Congenital disorders of glycosylation v2.66 SLC35D1 Sarah Leigh Phenotypes for gene: SLC35D1 were changed from 9.2.3. O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) to Schneckenbecken dysplasia OMIM:269250; schneckenbecken dysplasia MONDO:0010013
Congenital disorders of glycosylation v2.65 TMEM199 Sarah Leigh Phenotypes for gene: TMEM199 were changed from Congenital disorder of glycosylation, type IIp 616829 to Congenital disorder of glycosylation, type IIp OMIM:616829; TMEM199-CDG MONDO:0014790
Congenital disorders of glycosylation v2.64 TMEM199 Sarah Leigh Publications for gene: TMEM199 were set to 26833330
Congenital disorders of glycosylation v2.63 TMEM199 Sarah Leigh Classified gene: TMEM199 as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.63 TMEM199 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital disorders of glycosylation v2.63 TMEM199 Sarah Leigh Gene: tmem199 has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.62 SLC35A2 Sarah Leigh Classified gene: SLC35A2 as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.62 SLC35A2 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital disorders of glycosylation v2.62 SLC35A2 Sarah Leigh Gene: slc35a2 has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.61 SLC35A2 Sarah Leigh Phenotypes for gene: SLC35A2 were changed from Congenital disorder of glycosylation, type IIm 300896 to Congenital disorder of glycosylation, type IIm OMIM:300896; Developmental and epileptic encephalopathy-22 OMIM:300896; SLC35A2-CDG MONDO:0010478
Congenital disorders of glycosylation v2.60 SLC35A2 Sarah Leigh Deleted their comment
Congenital disorders of glycosylation v2.60 SLC35A2 Sarah Leigh Added comment: Comment on phenotypes: Congenital disorder of glycosylation, type IIm OMIM:300896;Developmental and epileptic encephalopathy-22 OMIM:300896;SLC35A2-CDG MONDO:0010478
Congenital disorders of glycosylation v2.60 SLC35A2 Sarah Leigh Phenotypes for gene: SLC35A2 were changed from Congenital disorder of glycosylation, type IIm OMIM:300896; developmental and epileptic encephalopathy-22 OMIM:300896; SLC35A2-CDG MONDO:0010478 to Congenital disorder of glycosylation, type IIm 300896
Congenital disorders of glycosylation v2.59 SLC35A2 Sarah Leigh Publications for gene: SLC35A2 were set to 23561849; 24115232; 27743886; 25778940; 30817854
Congenital disorders of glycosylation v2.58 SLC35A2 Sarah Leigh Tag Q2_21_rating tag was added to gene: SLC35A2.
Congenital disorders of glycosylation v2.58 SLC35A2 Sarah Leigh Phenotypes for gene: SLC35A2 were changed from Congenital disorder of glycosylation, type IIm OMIM:300896; SLC35A2-CDG MONDO:0010478 to Congenital disorder of glycosylation, type IIm OMIM:300896; developmental and epileptic encephalopathy-22 OMIM:300896; SLC35A2-CDG MONDO:0010478
Congenital disorders of glycosylation v2.57 SLC35A2 Sarah Leigh Phenotypes for gene: SLC35A2 were changed from Congenital disorder of glycosylation, type IIm 300896 to Congenital disorder of glycosylation, type IIm OMIM:300896; SLC35A2-CDG MONDO:0010478
Congenital disorders of glycosylation v2.56 SLC35A2 Sarah Leigh Publications for gene: SLC35A2 were set to 25778940; 27743886; 23561849
Congenital disorders of glycosylation v2.55 POMK Sarah Leigh Classified gene: POMK as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.55 POMK Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital disorders of glycosylation v2.55 POMK Sarah Leigh Gene: pomk has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.54 POMK Sarah Leigh Classified gene: POMK as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.54 POMK Sarah Leigh Gene: pomk has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.53 POMK Sarah Leigh Tag Q2_21_rating tag was added to gene: POMK.
Congenital disorders of glycosylation v2.53 POMK Sarah Leigh reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital disorders of glycosylation v2.53 POMK Sarah Leigh Phenotypes for gene: POMK were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 MONDO:0014101
Congenital disorders of glycosylation v2.52 POMK Sarah Leigh Publications for gene: POMK were set to 23519211; 24556084; 24925318
Congenital disorders of glycosylation v2.51 POMK Sarah Leigh Phenotypes for gene: POMK were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 (MIM #615249) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249
Congenital disorders of glycosylation v2.50 MAGT1 Sarah Leigh Added comment: Comment on phenotypes: Congenital disorder of glycosylation, type Icc OMIM:301031; congenital disorder of glycosylation, type ICC MONDO:0026729;Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia OMIM:300853;X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia MONDO:0010455
Congenital disorders of glycosylation v2.50 MAGT1 Sarah Leigh Phenotypes for gene: MAGT1 were changed from Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853; IAP-CDG (Disorders of protein N-glycosylation) to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853; IAP-CDG (Disorders of protein N-glycosylation)
Congenital disorders of glycosylation v2.49 MAGT1 Sarah Leigh edited their review of gene: MAGT1: Added comment: PMID 31036665 and PMID 31714901 demonstrate that variants in MAGT1 can result in disruption of glycosylation. This effect could be rescued in vitro by transfection of MAGT1 mRNA (PMID 31714901).
This gene is subject to skewed X-inactivation.; Changed rating: GREEN
Congenital disorders of glycosylation v2.49 MAGT1 Sarah Leigh Tag Skewed X-inactivation tag was added to gene: MAGT1.
Tag Q2_21_phenotype tag was added to gene: MAGT1.
Congenital disorders of glycosylation v2.49 MAGT1 Sarah Leigh Classified gene: MAGT1 as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.49 MAGT1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital disorders of glycosylation v2.49 MAGT1 Sarah Leigh Gene: magt1 has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.48 MAGT1 Sarah Leigh Publications for gene: MAGT1 were set to 27604308; 27393411
Congenital disorders of glycosylation v2.47 GORAB Sarah Leigh edited their review of gene: GORAB: Added comment: PMID 30631079 demonstrates that disrupting variants in GORAB result in "impairment of COPI-mediated retrieval of trans-Golgi enzymes, resulting in a deficit in glycosylation of secretory cargo proteins. Our results therefore identify GORAB as a COPI scaffolding factor". The authors conclude that this finding supports the view that "defective protein glycosylation is a major disease mechanism in gerodermia osteodysplastica".
Therefore variants in GORAB are relevant to this panel based on this mechanism.; Changed rating: GREEN
Congenital disorders of glycosylation v2.47 GORAB Sarah Leigh Publications for gene: GORAB were set to 26000619; 18348262; 28807865; 30631079
Congenital disorders of glycosylation v2.46 GORAB Sarah Leigh Classified gene: GORAB as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.46 GORAB Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital disorders of glycosylation v2.46 GORAB Sarah Leigh Gene: gorab has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.45 GORAB Sarah Leigh Tag Q2_21_phenotype tag was added to gene: GORAB.
Congenital disorders of glycosylation v2.45 GORAB Sarah Leigh Phenotypes for gene: GORAB were changed from Geroderma osteodysplasticum 231070 to Geroderma osteodysplasticum OMIM:231070; geroderma osteodysplastica MONDO:0009271
Congenital disorders of glycosylation v2.44 GORAB Sarah Leigh Publications for gene: GORAB were set to 26000619
Congenital disorders of glycosylation v2.43 G6PC3 Sarah Leigh Tag Q2_21_rating tag was added to gene: G6PC3.
Congenital disorders of glycosylation v2.43 G6PC3 Sarah Leigh Classified gene: G6PC3 as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.43 G6PC3 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital disorders of glycosylation v2.43 G6PC3 Sarah Leigh Gene: g6pc3 has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.42 G6PC3 Sarah Leigh Publications for gene: G6PC3 were set to 19118303; 21385794
Congenital disorders of glycosylation v2.41 G6PC3 Sarah Leigh Publications for gene: G6PC3 were set to 21385794
Congenital disorders of glycosylation v2.40 G6PC3 Sarah Leigh reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital disorders of glycosylation v2.40 G6PC3 Sarah Leigh Phenotypes for gene: G6PC3 were changed from Dursun syndrome 612541; Neutropenia, severe congenital 4, autosomal recessive 612541 to Dursun syndrome OMIM:612541; Neutropenia, severe congenital 4, autosomal recessive OMIM:612541; autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MONDO:0012930
Congenital disorders of glycosylation v2.39 FUK Sarah Leigh Phenotypes for gene: FUK were changed from Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324 to Congenital disorder of glycosylation with defective fucosylation 2 OMIM:618324; congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020777
Congenital disorders of glycosylation v2.38 FUK Sarah Leigh edited their review of gene: FUK: Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least three variants reported in two unrelated cases.; Changed rating: AMBER
Congenital disorders of glycosylation v2.38 FUK Sarah Leigh Classified gene: FUK as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.38 FUK Sarah Leigh Gene: fuk has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.37 FUK Sarah Leigh Tag watchlist tag was added to gene: FUK.
Congenital disorders of glycosylation v2.37 FUK Sarah Leigh commented on gene: FUK
Congenital disorders of glycosylation v2.37 FUK Sarah Leigh Tag new-gene-name tag was added to gene: FUK.
Congenital disorders of glycosylation v2.37 EOGT Sarah Leigh Phenotypes for gene: EOGT were changed from Adams-Oliver syndrome 4, MIM# 615297 to Adams-Oliver syndrome 4 OMIM:615297; Adams-Oliver syndrome 4 MONDO:0014124
Congenital disorders of glycosylation v2.36 EOGT Sarah Leigh Tag Q2_21_rating tag was added to gene: EOGT.
Congenital disorders of glycosylation v2.36 EOGT Sarah Leigh edited their review of gene: EOGT: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least five variants reported in five unrelated cases.; Changed rating: GREEN
Congenital disorders of glycosylation v2.36 EOGT Sarah Leigh Classified gene: EOGT as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.36 EOGT Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital disorders of glycosylation v2.36 EOGT Sarah Leigh Gene: eogt has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.35 B4GALNT1 Sarah Leigh Tag Q2_21_rating tag was added to gene: B4GALNT1.
Congenital disorders of glycosylation v2.35 B4GALNT1 Sarah Leigh Classified gene: B4GALNT1 as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.35 B4GALNT1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital disorders of glycosylation v2.35 B4GALNT1 Sarah Leigh Gene: b4galnt1 has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.34 B4GALNT1 Sarah Leigh reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital disorders of glycosylation v2.34 B4GALNT1 Sarah Leigh Phenotypes for gene: B4GALNT1 were changed from Spastic paraplegia 26, autosomal recessive (MIM #609195) to Spastic paraplegia 26, autosomal recessive OMIM:609195; hereditary spastic paraplegia 26 MONDO:0012213
Congenital disorders of glycosylation v2.33 TRAPPC11 Sarah Leigh Phenotypes for gene: TRAPPC11 were changed from Muscular dystrophy, limb-girdle, type 2S 615356 to Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356; autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144
Congenital disorders of glycosylation v2.32 TRAPPC11 Sarah Leigh Deleted their comment
Congenital disorders of glycosylation v2.32 TRAPPC11 Sarah Leigh Added comment: Comment on phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356;autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144
Congenital disorders of glycosylation v2.32 TRAPPC11 Sarah Leigh Phenotypes for gene: TRAPPC11 were changed from Muscular dystrophy, limb-girdle, type 2S 615356 to Muscular dystrophy, limb-girdle, type 2S 615356
Congenital disorders of glycosylation v2.31 TRAPPC11 Sarah Leigh Publications for gene: TRAPPC11 were set to 26912795; 23830518
Congenital disorders of glycosylation v2.30 TRAPPC11 Sarah Leigh edited their review of gene: TRAPPC11: Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least four variants reported in four unrelated cases. Animal model suggestive of involvement in glycosylation.; Changed rating: AMBER
Congenital disorders of glycosylation v2.30 TRAPPC11 Sarah Leigh Classified gene: TRAPPC11 as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.30 TRAPPC11 Sarah Leigh Gene: trappc11 has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.29 PIGW Sarah Leigh Tag Q2_21_rating tag was added to gene: PIGW.
Congenital disorders of glycosylation v2.29 PIGW Sarah Leigh edited their review of gene: PIGW: Added comment: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least six variants reported in at least four unrelated cases.; Changed rating: GREEN
Congenital disorders of glycosylation v2.29 PIGW Sarah Leigh Classified gene: PIGW as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.29 PIGW Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital disorders of glycosylation v2.29 PIGW Sarah Leigh Gene: pigw has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.28 PIGW Sarah Leigh Phenotypes for gene: PIGW were changed from ?Hyperphosphatasia with mental retardation syndrome 5 616025 to Glycosylphosphatidylinositol biosynthesis defect 11 OMIM:616025; hyperphosphatasia with intellectual disability syndrome 5 MONDO:0014457
Congenital disorders of glycosylation v2.27 PIGW Sarah Leigh Publications for gene: PIGW were set to 24367057
Congenital disorders of glycosylation v2.26 SRD5A3 Sarah Leigh Phenotypes for gene: SRD5A3 were changed from Congenital disorder of glycosylation, type Iq 612379; SRD5A3-CDG (Disorders of protein N-glycosylation) to Congenital Disorder of Glycosylation, Type Iq OMIM:612379; Kahrizi Syndrome OMIM:612713
Congenital disorders of glycosylation v2.25 SRD5A3 Sarah Leigh Publications for gene: SRD5A3 were set to 27480077
Congenital disorders of glycosylation v2.24 GMPPA Sarah Leigh edited their review of gene: GMPPA: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in unrelated cases.; Changed rating: GREEN; Changed phenotypes: Alacrima, achalasia, and mental retardation syndrome OMIM:615510
Congenital disorders of glycosylation v2.24 GMPPA Sarah Leigh Tag for-review tag was added to gene: GMPPA.
Congenital disorders of glycosylation v2.24 GMPPA Sarah Leigh Classified gene: GMPPA as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.24 GMPPA Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital disorders of glycosylation v2.24 GMPPA Sarah Leigh Gene: gmppa has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.23 CSGALNACT1 Eleanor Williams Tag for-review tag was added to gene: CSGALNACT1.
Congenital disorders of glycosylation v2.23 CSGALNACT1 Eleanor Williams Classified gene: CSGALNACT1 as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.23 CSGALNACT1 Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber, but with recommendation for green rating following GMS review as there are now 4 cases reported of biallelic variants in this gene in patients with mild skeletal dysplasia thought to result from disturbance of glycosaminoglycan synthesis.
Congenital disorders of glycosylation v2.23 CSGALNACT1 Eleanor Williams Gene: csgalnact1 has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.22 CSGALNACT1 Eleanor Williams Phenotypes for gene: CSGALNACT1 were changed from Congenital disorder of glycosylation; skeletal dysplasia to Congenital disorder of glycosylation; Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM:618870; skeletal dysplasia, mild, with joint laxity and advanced bone age MONDO:0030029
Congenital disorders of glycosylation v2.21 CSGALNACT1 Eleanor Williams Publications for gene: CSGALNACT1 were set to 31705726; 31325655
Congenital disorders of glycosylation v2.20 CSGALNACT1 Eleanor Williams edited their review of gene: CSGALNACT1: Changed publications: 27599773, 31325655, 31705726; Changed phenotypes: Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM:618870, skeletal dysplasia, mild, with joint laxity and advanced bone age MONDO:0030029
Congenital disorders of glycosylation v2.20 CSGALNACT1 Eleanor Williams reviewed gene: CSGALNACT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital disorders of glycosylation v2.20 MPI Arina Puzriakova Phenotypes for gene: MPI were changed from Congenital disorder of glycosylation, type Ib 602579; Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation) to Congenital disorder of glycosylation, type Ib, OMIM:602579; MPI-CDG, MONDO:0011257; Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation)
Congenital disorders of glycosylation v2.19 MPI Arina Puzriakova Publications for gene: MPI were set to 10980531
Congenital disorders of glycosylation v2.18 SSR3 Zornitza Stark gene: SSR3 was added
gene: SSR3 was added to Congenital disorders of glycosylation. Sources: Literature
Mode of inheritance for gene: SSR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SSR3 were set to 30945312
Phenotypes for gene: SSR3 were set to Congenital disorder of glycosylation, type Iu, MIM#615042
Review for gene: SSR3 was set to AMBER
Added comment: Single individual reported with an unsolved type I CDG, intellectual disability, homozygous LOF variant in SSR3, supportive functional evidence.
Sources: Literature
Congenital disorders of glycosylation v2.18 DPM2 Zornitza Stark reviewed gene: DPM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23109149, 33129689; Phenotypes: Congenital disorder of glycosylation, type Iu, MIM#615042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital disorders of glycosylation v2.18 SLC37A4 Zornitza Stark gene: SLC37A4 was added
gene: SLC37A4 was added to Congenital disorders of glycosylation. Sources: Literature
Mode of inheritance for gene: SLC37A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC37A4 were set to 32884905
Phenotypes for gene: SLC37A4 were set to Congenital disorder of glycosylation
Review for gene: SLC37A4 was set to RED
Added comment: Bi-allelic LOF variants in this gene cause glycogen storage disorder.

Single individual reported with heterozygous de novo variant in this gene. Clinical features included dysmorphic features (low set ears, a broad nose, mandibular micrognathia and facial asymmetry) and hepatopathy. The variant abolishes the ER retention signal of the transporter and generates a weak Golgi retention signal. Intracellular mislocalization of the transporter is postulated to lead to a congenital disorder of glycosylation instead of glycogen storage disease.
Sources: Literature
Congenital disorders of glycosylation v2.18 STT3A Arina Puzriakova Phenotypes for gene: STT3A were changed from ?Congenital disorder of glycosylation, type Iw 615596 to Congenital disorder of glycosylation, type Iw, 615596
Congenital disorders of glycosylation v2.17 STT3A Arina Puzriakova Publications for gene: STT3A were set to 23842455
Congenital disorders of glycosylation v2.16 STT3A Arina Puzriakova Classified gene: STT3A as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.16 STT3A Arina Puzriakova Added comment: Comment on list classification: There is enough evidence to support a gene-disease association, and so STT3A should be promoted from Amber to Green at the next GMS panel update (added 'for-review' tag).

At least 7 individuals from 3 unrelated families reported in literature, with 2 different homozygous variants in STT3A, as well as an additional case indicated by expert reviewer.
Congenital disorders of glycosylation v2.16 STT3A Arina Puzriakova Gene: stt3a has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.15 STT3A Arina Puzriakova Tag for-review tag was added to gene: STT3A.
Congenital disorders of glycosylation v2.15 GALNT2 Arina Puzriakova Classified gene: GALNT2 as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.15 GALNT2 Arina Puzriakova Added comment: Comment on list classification: The rating of this gene should be reviewed at the date of next GMS panel update - there is sufficient evidence to rate this gene Green.
Congenital disorders of glycosylation v2.15 GALNT2 Arina Puzriakova Gene: galnt2 has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.14 GALNT2 Arina Puzriakova Tag for-review tag was added to gene: GALNT2.
Congenital disorders of glycosylation v2.14 SRD5A3 Mehdi Montazer reviewed gene: SRD5A3: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 32424323; Phenotypes: Congenital Disorder of Glycosylation, Type Iq (OMIM: 612379), Kahrizi Syndrome (OMIM: 612713); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital disorders of glycosylation v2.14 SRD5A3 Mehdi Montazer Deleted their review
Congenital disorders of glycosylation v2.14 SRD5A3 Mehdi Montazer changed review comment from: Comment on rating: At least 38 genetically confirmed patients (from 26 families) have been reported. The frequency and prevalence of the disease are not known. Most patients have been reported from Afghanistan, the Czech Republic, Iran, Pakistan, Poland, Puerto Rico, and Turkey.

Comment on the mode of pathogenicity: Loss-of-function; At least 15 variants have been reported: 11 nonsense variants, 3 missense variants, and a large deletion (www.lovd.nl/SRD5A3).

Comment on the mode of inheritance: AR (homozygous or compound heterozygous); to: Comment on rating: At least 38 genetically confirmed patients (from 26 families) have been reported. The frequency and prevalence of the disease are not known. Most patients have been reported from Afghanistan, the Czech Republic, Iran, Pakistan, Poland, Puerto Rico, and Turkey.

Comment on the mode of pathogenicity: Loss-of-function; At least 15 variants have been reported: 11 nonsense variants, 3 missense variants, and a large deletion (www.lovd.nl/SRD5A3).

Comment on the mode of inheritance: AR (homozygous or compound heterozygous)
Congenital disorders of glycosylation v2.14 SRD5A3 Mehdi Montazer reviewed gene: SRD5A3: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 32424323; Phenotypes: Congenital Disorder of Glycosylation, Type Iq (OMIM: 612379 ), Kahrizi Syndrome (OMIM: 612713); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital disorders of glycosylation v2.14 NGLY1 Eleanor Williams reviewed gene: NGLY1: Rating: ; Mode of pathogenicity: None; Publications: 32259258; Phenotypes: ; Mode of inheritance: None
Congenital disorders of glycosylation v2.14 TMEM199 Zornitza Stark reviewed gene: TMEM199: Rating: GREEN; Mode of pathogenicity: None; Publications: 26833330, 29321044; Phenotypes: Congenital disorder of glycosylation, type IIp MIM# 616829; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital disorders of glycosylation v2.14 STT3A Zornitza Stark reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23842455, 30701557, 28424003; Phenotypes: Congenital disorder of glycosylation, type Iw, OMIM #615596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital disorders of glycosylation v2.14 FUK Zornitza Stark gene: FUK was added
gene: FUK was added to Congenital disorders of glycosylation. Sources: Expert list
Mode of inheritance for gene: FUK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUK were set to 30503518
Phenotypes for gene: FUK were set to Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324
Review for gene: FUK was set to AMBER
Added comment: Two unrelated individuals reported.
Sources: Expert list
Congenital disorders of glycosylation v2.14 CSGALNACT1 Zornitza Stark gene: CSGALNACT1 was added
gene: CSGALNACT1 was added to Congenital disorders of glycosylation. Sources: Expert list
Mode of inheritance for gene: CSGALNACT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSGALNACT1 were set to 31705726; 31325655
Phenotypes for gene: CSGALNACT1 were set to Congenital disorder of glycosylation; skeletal dysplasia
Review for gene: CSGALNACT1 was set to GREEN
Added comment: Four unrelated families reported. CSGALNACT1 is predicted to transfer GalNAc to both the tetrasaccharide linker and to growing CS chains in proteoglycans.
Sources: Expert list
Congenital disorders of glycosylation v2.14 GMPPA Zornitza Stark gene: GMPPA was added
gene: GMPPA was added to Congenital disorders of glycosylation. Sources: Expert list
Mode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GMPPA were set to 24035193; 28574218
Phenotypes for gene: GMPPA were set to Alacrima, achalasia, and mental retardation syndrome (MIM# 615510)
Review for gene: GMPPA was set to GREEN
Added comment: Variants in this gene induce a significant GDP-mannose overload, which is postulated to affect protein glycosylation.

PMID: 24035193;
- 13 affecteds from 9 families
- GDP-mannose levels were shown to be increased in 2 of the affecteds

PMID: 28574218;
- 2 sisters with achalasia, alacrima, hypohydrosis, apparent intellectual disability, seizures, microcephaly, esotropia, and craniofacial dysmorphism homozygous for c.853+1G>A.
- Loss of GMPPA protein leading to increased levels of GDP-mannose were demonstrated
Sources: Expert list
Congenital disorders of glycosylation v2.14 MAGT1 Zornitza Stark reviewed gene: MAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31036665, 31714901; Phenotypes: Congenital disorder of glycosylation, type Icc (MIM# 301031), Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Congenital disorders of glycosylation v2.14 EOGT Zornitza Stark gene: EOGT was added
gene: EOGT was added to Congenital disorders of glycosylation. Sources: Expert list
Mode of inheritance for gene: EOGT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EOGT were set to 23522784; 31368252; 29924900
Phenotypes for gene: EOGT were set to Adams-Oliver syndrome 4, MIM# 615297
Review for gene: EOGT was set to GREEN
gene: EOGT was marked as current diagnostic
Added comment: Multiple families reported. EOGT is an O-linked-N-acetylglucosamine (O-GlcNAc) transferase, with modification restricted to the epidermal growth factor (EGF) domain-containing glycoproteins.
Sources: Expert list
Congenital disorders of glycosylation v2.14 POMK Zornitza Stark gene: POMK was added
gene: POMK was added to Congenital disorders of glycosylation. Sources: Expert list
Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMK were set to 23519211; 24556084; 24925318
Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 (MIM #615249)
Review for gene: POMK was set to GREEN
gene: POMK was marked as current diagnostic
Added comment: At least 3 families described with muscular dystrophy-dystroglycanopathy type A (PMID:23519211, 24556084, 24925318)

1 family described with muscular dystrophy-dystroglycanopathy type C (PMID:24925318)

The POMK gene encodes protein-O-mannose kinase, which is required for proper glycosylation and function of the dystroglycan complex
Sources: Expert list
Congenital disorders of glycosylation v2.14 G6PC3 Zornitza Stark gene: G6PC3 was added
gene: G6PC3 was added to Congenital disorders of glycosylation. Sources: Expert list
Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: G6PC3 were set to 21385794
Phenotypes for gene: G6PC3 were set to Dursun syndrome 612541; Neutropenia, severe congenital 4, autosomal recessive 612541
Review for gene: G6PC3 was set to GREEN
gene: G6PC3 was marked as current diagnostic
Added comment: Multiple families reported. Deficiencies in G6PC3 impair the hydrolysis of glucose-6-phosphate to glucose. Patients’ neutrophils have both truncated and galactose-defective N- and O-glycans. 86 G6PC3 mutations cause severe congenital neutropenia (SCN) 4 (MIM: 612541) and Dursun syndrome (MIM: 612541). 83 The 119 G6PC3-CDG patients identified present with a wide range of immunological clinical manifestations and cellular/biochemical alterations.

4 unrelated families (PMID:21385794), profound hypo-galactosylation of N- and O-glycans. The observed defects in glycosylation merit the designation of congenital disorders of glycosylation (CDGs) to both syndromes.
Sources: Expert list
Congenital disorders of glycosylation v2.14 GORAB Zornitza Stark edited their review of gene: GORAB: Set current diagnostic: yes
Congenital disorders of glycosylation v2.14 GORAB Zornitza Stark reviewed gene: GORAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 18348262, 28807865, 30631079; Phenotypes: Geroderma osteodysplasticum MIM#231070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital disorders of glycosylation v2.14 B4GALNT1 Zornitza Stark gene: B4GALNT1 was added
gene: B4GALNT1 was added to Congenital disorders of glycosylation. Sources: Expert list
Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GALNT1 were set to 23746551; 24103911
Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia 26, autosomal recessive (MIM #609195)
Review for gene: B4GALNT1 was set to GREEN
gene: B4GALNT1 was marked as current diagnostic
Added comment: 8 families described in total. The B4GALNT1 gene encodes beta-1,4-N-acetylgalactosaminyl transferase-1 (EC 2.4.1.92), an enzyme involved in the biosynthesis of complex gangliosides (G), which are mono- (M), di- (D), and tri- (T) sialic acid-containing glycosphingolipids generated by sequential glycosylations. (OMIM). 5 families with different homozygous variants described with complex hereditary spastic paraplegia (PMID: 23746551). Another 3 families with homozygous variants and progressive weakness and spasticity were described in PMID:24103911.
Sources: Expert list
Congenital disorders of glycosylation v2.14 SLC35A2 Zornitza Stark reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561849, 24115232, 27743886, 25778940, 30817854; Phenotypes: Congenital disorder of glycosylation, type IIm (MIM #300896); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Congenital disorders of glycosylation v2.14 TRAPPC11 Zornitza Stark reviewed gene: TRAPPC11: Rating: AMBER; Mode of pathogenicity: None; Publications: 23830518, 26322222, 29855340, 30105108, 26912795, 27707803, 27862579, 28484880; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM# 615356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital disorders of glycosylation v2.14 PIGW Zornitza Stark reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: None; Publications: 24367057, 27626616, 30813920, 32198969; Phenotypes: intractable seizures, West syndrome, severe developmental delay, dysmorphic facial features, hyperphosphatasia, epilepsy, recurrent respiratory infections, hypotonia, stereotypies, Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital disorders of glycosylation v2.14 GALNT2 Sarah Leigh Deleted their comment
Congenital disorders of glycosylation v2.14 GALNT2 Sarah Leigh changed review comment from: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 5 variants reported in at least unrelated cases, together with mouse and rat models (PMID 27508872;32293671).; to: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 5 variants reported in at least 5 unrelated cases, together with mouse and rat models (PMID 27508872;32293671).
Congenital disorders of glycosylation v2.14 ALG14 Sarah Leigh commented on gene: ALG14: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital disorders of glycosylation v2.14 ALG14 Sarah Leigh Classified gene: ALG14 as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.14 ALG14 Sarah Leigh Added comment: Comment on list classification: Associated with Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 in OMIM, but not associated with phenotype in Gen2Phen. At least 6 variants reported in at least 5 cases with varying phenotypes. PMID 23404334 reports compound heterozygous (p.P65L, P.R104*) sibs, who manifested with myasthenic syndromes, but did not have intellectural disability nor seizures and were 62 and 51 years old when reported. PMID 28733338 reports two compound heterozygous (p.D74N, pV141G), (p.D74N, p.R109Q) cases and a homozygous ((p.D74N), with early and lethal neurodegeneration with myasthenic and myopathic features, but the cases died before intellectual disability was manifiest. However, seizures were evident in two compound heterozygous families. PMID 30221345 reports a homozygous splicing variant in a case with intellectual disability and seizures. Functional studies were presented showing that this variant resulting in exon skipping, however, this was not completely prenetrant as wild type protein was detected at a low level in the patient.
Congenital disorders of glycosylation v2.14 ALG14 Sarah Leigh Gene: alg14 has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.13 ALG14 Sarah Leigh Publications for gene: ALG14 were set to 27604308; 23404334
Congenital disorders of glycosylation v2.12 ALG14 Sarah Leigh Tag for-review tag was added to gene: ALG14.
Congenital disorders of glycosylation v2.12 PIGS Sarah Leigh Tag for-review tag was added to gene: PIGS.
Congenital disorders of glycosylation v2.12 PIGS Sarah Leigh edited their review of gene: PIGS: Added comment: There is enough evidence for this gene to be rated GREEN at the next major review.; Changed rating: GREEN
Congenital disorders of glycosylation v2.12 PIGS Sarah Leigh Phenotypes for gene: PIGS were changed from Glycosylphosphatidylinositol biosynthesis defect 18 618143 to Glycosylphosphatidylinositol biosynthesis defect 18 618143
Congenital disorders of glycosylation v2.11 PIGS Sarah Leigh Classified gene: PIGS as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.11 PIGS Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 5 variants reported in at least 3 unrelated cases.
Congenital disorders of glycosylation v2.11 PIGS Sarah Leigh Gene: pigs has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.10 GALNT2 Sarah Leigh Classified gene: GALNT2 as Green List (high evidence)
Congenital disorders of glycosylation v2.10 GALNT2 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 5 variants reported in at least unrelated cases, together with mouse and rat models (PMID 27508872;32293671).
Congenital disorders of glycosylation v2.10 GALNT2 Sarah Leigh Gene: galnt2 has been classified as Green List (High Evidence).
Congenital disorders of glycosylation v2.9 GALNT2 Sarah Leigh Classified gene: GALNT2 as Green List (high evidence)
Congenital disorders of glycosylation v2.9 GALNT2 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 5 variants reported in at least unrelated cases, together with mouse and rat models (PMID 27508872;32293671).
Congenital disorders of glycosylation v2.9 GALNT2 Sarah Leigh Gene: galnt2 has been classified as Green List (High Evidence).
Congenital disorders of glycosylation v2.8 GALNT2 Sarah Leigh Publications for gene: GALNT2 were set to 32293671
Congenital disorders of glycosylation v2.7 GALNT2 Sarah Leigh Phenotypes for gene: GALNT2 were changed from Congenital disorder of glycosylation to Congenital disorder of glycosylation, type IIt 618885
Congenital disorders of glycosylation v2.6 PIGA Sarah Leigh Tag Skewed X-inactivation tag was added to gene: PIGA.
Congenital disorders of glycosylation v2.6 GALNT2 Zornitza Stark gene: GALNT2 was added
gene: GALNT2 was added to Congenital disorders of glycosylation. Sources: Literature
Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNT2 were set to 32293671
Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation
Review for gene: GALNT2 was set to GREEN
gene: GALNT2 was marked as current diagnostic
Added comment: Seven individuals from four families reported with bi-allelic LOF variants and global developmental delay, intellectual disability with language deficit, autistic features, behavioural abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. Rodent (mouse and rat) models of GALNT2-CDG recapitulated much of the human phenotype, including poor growth and neurodevelopmental abnormalities. Suggest adding to ID and epilepsy panels.
Sources: Literature
Congenital disorders of glycosylation v2.5 Catherine Snow Panel version has been signed off
Congenital disorders of glycosylation v2.4 Catherine Snow Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Congenital disorders of glycosylation v2.3 Catherine Snow Panel version has been signed off
Congenital disorders of glycosylation v2.2 Catherine Snow Panel types changed to Rare Disease 100K; Component Of Super Panel; GMS signed-off
Congenital disorders of glycosylation v2.0 PIGS Zornitza Stark gene: PIGS was added
gene: PIGS was added to Congenital disorders of glycosylation. Sources: Expert list
Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGS were set to 30269814
Phenotypes for gene: PIGS were set to Glycosylphosphatidylinositol biosynthesis defect 18 618143
Review for gene: PIGS was set to GREEN
gene: PIGS was marked as current diagnostic
Added comment: Three unrelated families reported. Severe neurological phenotype ranging from fetal akinesia to ID/EE.
Sources: Expert list
Congenital disorders of glycosylation v2.0 TMEM165 Rebecca Foulger commented on gene: TMEM165
Congenital disorders of glycosylation v2.0 SLC39A8 Rebecca Foulger commented on gene: SLC39A8
Congenital disorders of glycosylation v2.0 SLC35C1 Rebecca Foulger commented on gene: SLC35C1
Congenital disorders of glycosylation v2.0 SLC35A1 Rebecca Foulger Deleted their comment
Congenital disorders of glycosylation v2.0 SLC35A1 Rebecca Foulger commented on gene: SLC35A1: GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=P78382-1
Congenital disorders of glycosylation v2.0 SLC35A1 Rebecca Foulger commented on gene: SLC35A1: GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=P78382-1
Congenital disorders of glycosylation v2.0 SEC23B Rebecca Foulger commented on gene: SEC23B
Congenital disorders of glycosylation v2.0 POMT2 Rebecca Foulger commented on gene: POMT2
Congenital disorders of glycosylation v2.0 POMT1 Rebecca Foulger commented on gene: POMT1
Congenital disorders of glycosylation v2.0 POMGNT1 Rebecca Foulger commented on gene: POMGNT1
Congenital disorders of glycosylation v2.0 PMM2 Rebecca Foulger commented on gene: PMM2
Congenital disorders of glycosylation v2.0 PIGA Rebecca Foulger commented on gene: PIGA
Congenital disorders of glycosylation v2.0 PGM1 Rebecca Foulger commented on gene: PGM1
Congenital disorders of glycosylation v2.0 NGLY1 Rebecca Foulger commented on gene: NGLY1
Congenital disorders of glycosylation v2.0 MOGS Rebecca Foulger commented on gene: MOGS
Congenital disorders of glycosylation v2.0 MGAT2 Rebecca Foulger commented on gene: MGAT2
Congenital disorders of glycosylation v2.0 LARGE1 Rebecca Foulger commented on gene: LARGE1
Congenital disorders of glycosylation v2.0 GNE Rebecca Foulger commented on gene: GNE
Congenital disorders of glycosylation v2.0 GFPT1 Rebecca Foulger commented on gene: GFPT1
Congenital disorders of glycosylation v2.0 GALNT3 Rebecca Foulger commented on gene: GALNT3
Congenital disorders of glycosylation v2.0 FKTN Rebecca Foulger commented on gene: FKTN
Congenital disorders of glycosylation v2.0 FKRP Rebecca Foulger commented on gene: FKRP
Congenital disorders of glycosylation v2.0 EXT2 Rebecca Foulger commented on gene: EXT2
Congenital disorders of glycosylation v2.0 EXT1 Rebecca Foulger commented on gene: EXT1
Congenital disorders of glycosylation v2.0 DPAGT1 Rebecca Foulger commented on gene: DPAGT1
Congenital disorders of glycosylation v2.0 COG8 Rebecca Foulger commented on gene: COG8
Congenital disorders of glycosylation v2.0 COG7 Rebecca Foulger commented on gene: COG7
Congenital disorders of glycosylation v2.0 COG6 Rebecca Foulger commented on gene: COG6
Congenital disorders of glycosylation v2.0 COG5 Rebecca Foulger commented on gene: COG5
Congenital disorders of glycosylation v2.0 COG4 Rebecca Foulger commented on gene: COG4
Congenital disorders of glycosylation v2.0 COG1 Rebecca Foulger commented on gene: COG1
Congenital disorders of glycosylation v2.0 CHSY1 Rebecca Foulger commented on gene: CHSY1
Congenital disorders of glycosylation v2.0 CHST6 Rebecca Foulger commented on gene: CHST6
Congenital disorders of glycosylation v2.0 CHST3 Rebecca Foulger commented on gene: CHST3
Congenital disorders of glycosylation v2.0 CCDC115 Rebecca Foulger commented on gene: CCDC115
Congenital disorders of glycosylation v2.0 B4GALT1 Rebecca Foulger commented on gene: B4GALT1
Congenital disorders of glycosylation v2.0 B3GLCT Rebecca Foulger commented on gene: B3GLCT
Congenital disorders of glycosylation v2.0 TMEM199 Sarah Leigh edited their review of gene: TMEM199: Added comment: Should be promoted from Red to Green, due to feedback from the GMS Metabolic Specialist disease test group: 4 patients from 3 unrelated families reported in the literature. All patients had a type 2 pattern on serum transferrin isoelectric focusing (IEF), indicating abnormal N-glycosylation, as well as abnormal IEF of ApoC-III, indicating abnormal O-glycosylation (PMID:26833330). Ellen McDonagh (Genomics England Curator), 4 Dec 2019.; Changed rating: GREEN; Changed publications: 26833330
Congenital disorders of glycosylation v2.0 DPM2 Sarah Leigh edited their review of gene: DPM2: Added comment: DPM2 should be rated as green due to the following: PMID 23109149 describes 3 children from 2 families with muscular dystrophy-dystroglycanopathy, plus good functional evidence this class of CDG can be associated with CMD - Arianna Tucci (Genomics England Clinical Fellow), Jan. 25, 2017, 4:41 p.m.; Changed rating: GREEN
Congenital disorders of glycosylation v2.0 Louise Daugherty promoted panel to version 2.0
Congenital disorders of glycosylation v1.36 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off
Congenital disorders of glycosylation v1.34 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel
Congenital disorders of glycosylation v1.33 DPAGT1 Eleanor Williams Publications for gene: DPAGT1 were set to 12872255; 22304930
Congenital disorders of glycosylation v1.32 Louise Daugherty Panel types changed to Rare Disease 100K; Component Of Super Panel
Congenital disorders of glycosylation v1.31 DPM3 Sarah Leigh Classified gene: DPM3 as Green List (high evidence)
Congenital disorders of glycosylation v1.31 DPM3 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 2 variants reported as homozygotes in two unrelated cases, together with segregation and supportive functional studies.
Congenital disorders of glycosylation v1.31 DPM3 Sarah Leigh Gene: dpm3 has been classified as Green List (High Evidence).
Congenital disorders of glycosylation v1.30 DPM3 Sarah Leigh Phenotypes for gene: DPM3 were changed from Congenital disorder of glycosylation, type Io 612937 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937
Congenital disorders of glycosylation v1.29 DPM3 Sarah Leigh Publications for gene: DPM3 were set to 19576565
Congenital disorders of glycosylation v1.28 DHDDS Sarah Leigh Phenotypes for gene: DHDDS were changed from Retinitis pigmentosa 59 613861 to Retinitis pigmentosa 59 613861; ?Congenital disorder of glycosylation, type 1bb 613861
Congenital disorders of glycosylation v1.27 ALG13 Sarah Leigh Added comment: Comment on mode of inheritance: From OMIM and Gen2Phen
Congenital disorders of glycosylation v1.27 ALG13 Sarah Leigh Mode of inheritance for gene: ALG13 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital disorders of glycosylation v1.24 SLC35A1 Rebecca Foulger Classified gene: SLC35A1 as Green List (high evidence)
Congenital disorders of glycosylation v1.24 SLC35A1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following review of 2018 paper (30115659) and clinical agreement from Helen Brittain. Although rating on DD-G2P remains as 'Probable' and the phenotypic spectrum is not consistent, there are sufficient (>3) cases with homozygous or compound het SLC35A1 variants to support causation of glycosylation disorder.
Congenital disorders of glycosylation v1.24 SLC35A1 Rebecca Foulger Gene: slc35a1 has been classified as Green List (High Evidence).
Congenital disorders of glycosylation v1.23 SLC35A1 Rebecca Foulger commented on gene: SLC35A1
Congenital disorders of glycosylation v1.23 SLC35A1 Rebecca Foulger Phenotypes for gene: SLC35A1 were changed from Congenital disorder of glycosylation, type IIf 603585; CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) to Congenital disorder of glycosylation, type IIf, 603585; CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Congenital disorders of glycosylation v1.22 SLC35A1 Rebecca Foulger Publications for gene: SLC35A1 were set to 15576474; 23873973
Congenital disorders of glycosylation v1.21 ISPD Louise Daugherty commented on gene: ISPD
Congenital disorders of glycosylation v1.21 ISPD Louise Daugherty Tag new-gene-name tag was added to gene: ISPD.
Congenital disorders of glycosylation v1.21 SSR4 Rebecca Foulger Phenotypes for gene: SSR4 were changed from ?Congenital disorder of glycosylation, type Iy 300934 to Congenital disorder of glycosylation, type Iy 300934
Congenital disorders of glycosylation v1.20 CAD Konstantinos Varvagiannis reviewed gene: CAD: Rating: AMBER; Mode of pathogenicity: None; Publications: 28007989; Phenotypes: Epileptic encephalopathy, early infantile, 50 - MIM 616457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital disorders of glycosylation v1.20 CAD Konstantinos Varvagiannis Deleted their review
Congenital disorders of glycosylation v1.20 CAD Konstantinos Varvagiannis reviewed gene: CAD: Rating: AMBER; Mode of pathogenicity: None; Publications: 28007989; Phenotypes: Epileptic encephalopathy, early infantile, 50 - MIM 616457; Mode of inheritance: None
Congenital disorders of glycosylation v1.20 FUT8 Louise Daugherty Classified gene: FUT8 as Green List (high evidence)
Congenital disorders of glycosylation v1.20 FUT8 Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
Congenital disorders of glycosylation v1.20 FUT8 Louise Daugherty Gene: fut8 has been classified as Green List (High Evidence).
Congenital disorders of glycosylation v1.19 FUT8 Konstantinos Varvagiannis gene: FUT8 was added
gene: FUT8 was added to Congenital disorders of glycosylation. Sources: Literature
Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUT8 were set to 29304374
Phenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation, 618005
Penetrance for gene: FUT8 were set to Complete
Review for gene: FUT8 was set to GREEN
Added comment: PMID: 29304374 reports on 3 unrelated individuals with biallelic pathogenic variants in FUT8.

Two of the patients were born to consanguineous parents and were found to be homozygous for stopgain variants (p.Arg239* in one family and p.Arg315* in the other). A third patient was compound heterozygous for a missense as well as a splice variant.

All three presented with similar phenotype consisting of polyhydramnios (2 out of 3), IUGR and failure to thrive with short stature (3/3), severe developmental delay (3/3) with microcephaly (3/3) and seizures (3/3). Variable respiratory problems were also noted in all.

Western blot demonstrated loss of FUT8 protein expression in one individual homozygous for a stopgain mutation as well as the patient who was compound heterozygous for the missense and the splice variant. The splice variant was further shown to produce a shorter transcript due to lack of exon 9, leading to an in-frame deletion of 59 residues critical for the protein function.

Additional studies confirmed the fucosylation defect compared to controls.

The authors note that while Fut8 knockout mice are born normal, 70% die within the first 3 days due to severe growth retardation and respiratory deficiency (similarly to what is observed in humans, though to a lesser extent).

This type of CDG is associated with a normal carbohydrate-deficient transferrin (CDT) pattern.

As a result this gene can be considered for inclusion in this panel probably as green.
Sources: Literature
Congenital disorders of glycosylation v1.19 ALG14 Zornitza Stark reviewed gene: ALG14: Rating: GREEN; Mode of pathogenicity: None; Publications: 28733338, 30221345; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital disorders of glycosylation ALG3 Arianna Tucci reviewed gene: ALG3
Congenital disorders of glycosylation TMEM5 Louise Daugherty commented on TMEM5
Congenital disorders of glycosylation COG5 Eleanor Williams commented on COG5
Congenital disorders of glycosylation NGLY1 Sarah Leigh edited their review of NGLY1
Congenital disorders of glycosylation NGLY1 Sarah Leigh classified NGLY1 as green
Congenital disorders of glycosylation NGLY1 Sarah Leigh reviewed NGLY1
Congenital disorders of glycosylation PIGT Sarah Leigh classified PIGT as green
Congenital disorders of glycosylation COG2 Rebecca Foulger commented on COG2
Congenital disorders of glycosylation MOGS Sarah Leigh classified MOGS as green
Congenital disorders of glycosylation SLC39A8 Sarah Leigh classified SLC39A8 as green
Congenital disorders of glycosylation Sarah Leigh promoted panel to version 1
Congenital disorders of glycosylation SLC35A3 Sarah Leigh marked SLC35A3 as ready
Congenital disorders of glycosylation SLC35A3 Sarah Leigh commented on SLC35A3
Congenital disorders of glycosylation SLC35A3 Sarah Leigh classified SLC35A3 as red
Congenital disorders of glycosylation XYLT2 Sarah Leigh marked XYLT2 as ready
Congenital disorders of glycosylation XYLT2 Sarah Leigh classified XYLT2 as green
Congenital disorders of glycosylation XYLT2 Sarah Leigh commented on XYLT2
Congenital disorders of glycosylation XYLT1 Sarah Leigh marked XYLT1 as ready
Congenital disorders of glycosylation XYLT1 Sarah Leigh commented on XYLT1
Congenital disorders of glycosylation XYLT1 Sarah Leigh classified XYLT1 as green
Congenital disorders of glycosylation TRAPPC11 Sarah Leigh marked TRAPPC11 as ready
Congenital disorders of glycosylation TRAPPC11 Sarah Leigh commented on TRAPPC11
Congenital disorders of glycosylation TRAPPC11 Sarah Leigh classified TRAPPC11 as red
Congenital disorders of glycosylation TMEM5 Sarah Leigh marked TMEM5 as ready
Congenital disorders of glycosylation TMEM5 Sarah Leigh commented on TMEM5
Congenital disorders of glycosylation TMEM5 Sarah Leigh classified TMEM5 as green
Congenital disorders of glycosylation POMGNT2 Sarah Leigh marked POMGNT2 as ready
Congenital disorders of glycosylation POMGNT2 Sarah Leigh commented on POMGNT2
Congenital disorders of glycosylation POMGNT2 Sarah Leigh classified POMGNT2 as green
Congenital disorders of glycosylation PIGW Sarah Leigh marked PIGW as ready
Congenital disorders of glycosylation PIGW Sarah Leigh commented on PIGW
Congenital disorders of glycosylation PIGW Sarah Leigh classified PIGW as red
Congenital disorders of glycosylation PIGT Sarah Leigh marked PIGT as ready
Congenital disorders of glycosylation PIGT Sarah Leigh commented on PIGT
Congenital disorders of glycosylation PIGT Sarah Leigh classified PIGT as red
Congenital disorders of glycosylation PGM3 Sarah Leigh marked PGM3 as ready
Congenital disorders of glycosylation PGM3 Sarah Leigh commented on PGM3
Congenital disorders of glycosylation PGM3 Sarah Leigh classified PGM3 as green
Congenital disorders of glycosylation PGAP3 Sarah Leigh marked PGAP3 as ready
Congenital disorders of glycosylation PGAP3 Sarah Leigh commented on PGAP3
Congenital disorders of glycosylation PGAP3 Sarah Leigh classified PGAP3 as green
Congenital disorders of glycosylation ISPD Sarah Leigh commented on ISPD
Congenital disorders of glycosylation ISPD Sarah Leigh marked ISPD as ready
Congenital disorders of glycosylation ISPD Sarah Leigh classified ISPD as green
Congenital disorders of glycosylation GORAB Sarah Leigh marked GORAB as ready
Congenital disorders of glycosylation GORAB Sarah Leigh commented on GORAB
Congenital disorders of glycosylation GORAB Sarah Leigh classified GORAB as red
Congenital disorders of glycosylation GMPPB Sarah Leigh classified GMPPB as green
Congenital disorders of glycosylation GMPPB Sarah Leigh marked GMPPB as ready
Congenital disorders of glycosylation GMPPB Sarah Leigh commented on GMPPB
Congenital disorders of glycosylation COG2 Sarah Leigh marked COG2 as ready
Congenital disorders of glycosylation COG2 Sarah Leigh commented on COG2
Congenital disorders of glycosylation COG2 Sarah Leigh classified COG2 as red
Congenital disorders of glycosylation B3GALT6 Sarah Leigh classified B3GALT6 as green
Congenital disorders of glycosylation B3GALT6 Sarah Leigh marked B3GALT6 as ready
Congenital disorders of glycosylation B3GALT6 Sarah Leigh commented on B3GALT6
Congenital disorders of glycosylation B3GALNT2 Sarah Leigh marked B3GALNT2 as ready
Congenital disorders of glycosylation B3GALNT2 Sarah Leigh commented on B3GALNT2
Congenital disorders of glycosylation B3GALNT2 Sarah Leigh classified B3GALNT2 as green
Congenital disorders of glycosylation ATP6AP1 Sarah Leigh marked ATP6AP1 as ready
Congenital disorders of glycosylation ATP6AP1 Sarah Leigh commented on ATP6AP1
Congenital disorders of glycosylation ATP6AP1 Sarah Leigh classified ATP6AP1 as green
Congenital disorders of glycosylation ST3GAL3 Sarah Leigh marked ST3GAL3 as ready
Congenital disorders of glycosylation ST3GAL3 Sarah Leigh commented on ST3GAL3
Congenital disorders of glycosylation TMEM199 Sarah Leigh marked TMEM199 as ready
Congenital disorders of glycosylation TMEM199 Sarah Leigh commented on TMEM199
Congenital disorders of glycosylation STT3A Sarah Leigh marked STT3A as ready
Congenital disorders of glycosylation STT3A Sarah Leigh commented on STT3A
Congenital disorders of glycosylation STT3A Sarah Leigh classified STT3A as amber
Congenital disorders of glycosylation SSR4 Sarah Leigh marked SSR4 as ready
Congenital disorders of glycosylation SSR4 Sarah Leigh commented on SSR4
Congenital disorders of glycosylation SSR4 Sarah Leigh classified SSR4 as green
Congenital disorders of glycosylation SLC39A8 Sarah Leigh marked SLC39A8 as ready
Congenital disorders of glycosylation SLC39A8 Sarah Leigh commented on SLC39A8
Congenital disorders of glycosylation PIGN Sarah Leigh marked PIGN as ready
Congenital disorders of glycosylation PIGN Sarah Leigh commented on PIGN
Congenital disorders of glycosylation PIGM Sarah Leigh marked PIGM as ready
Congenital disorders of glycosylation PIGM Sarah Leigh commented on PIGM
Congenital disorders of glycosylation PIGM Sarah Leigh classified PIGM as amber
Congenital disorders of glycosylation CCDC115 Sarah Leigh marked CCDC115 as ready
Congenital disorders of glycosylation CCDC115 Sarah Leigh commented on CCDC115
Congenital disorders of glycosylation CCDC115 Sarah Leigh classified CCDC115 as green
Congenital disorders of glycosylation ALG14 Sarah Leigh marked ALG14 as ready
Congenital disorders of glycosylation ALG14 Sarah Leigh commented on ALG14
Congenital disorders of glycosylation SLC35A2 Sarah Leigh marked SLC35A2 as ready
Congenital disorders of glycosylation SLC35A2 Sarah Leigh commented on SLC35A2
Congenital disorders of glycosylation MAGT1 Sarah Leigh commented on MAGT1
Congenital disorders of glycosylation MAGT1 Sarah Leigh marked MAGT1 as ready
Congenital disorders of glycosylation MAGT1 Sarah Leigh classified MAGT1 as red
Congenital disorders of glycosylation CHSY1 Sarah Leigh marked CHSY1 as ready
Congenital disorders of glycosylation CHSY1 Sarah Leigh commented on CHSY1
Congenital disorders of glycosylation CHSY1 Sarah Leigh classified CHSY1 as green
Congenital disorders of glycosylation CHST14 Sarah Leigh marked CHST14 as ready
Congenital disorders of glycosylation CHST14 Sarah Leigh commented on CHST14
Congenital disorders of glycosylation CHST14 Sarah Leigh classified CHST14 as green
Congenital disorders of glycosylation C1GALT1C1 Sarah Leigh marked C1GALT1C1 as ready
Congenital disorders of glycosylation C1GALT1C1 Sarah Leigh commented on C1GALT1C1
Congenital disorders of glycosylation C1GALT1C1 Sarah Leigh classified C1GALT1C1 as red
Congenital disorders of glycosylation B3GAT3 Sarah Leigh marked B3GAT3 as ready
Congenital disorders of glycosylation B3GAT3 Sarah Leigh commented on B3GAT3
Congenital disorders of glycosylation B3GAT3 Sarah Leigh classified B3GAT3 as green
Congenital disorders of glycosylation TUSC3 Sarah Leigh marked TUSC3 as ready
Congenital disorders of glycosylation TUSC3 Sarah Leigh commented on TUSC3
Congenital disorders of glycosylation TMEM165 Sarah Leigh marked TMEM165 as ready
Congenital disorders of glycosylation TMEM165 Sarah Leigh commented on TMEM165
Congenital disorders of glycosylation ST3GAL5 Sarah Leigh marked ST3GAL5 as ready
Congenital disorders of glycosylation ST3GAL5 Sarah Leigh commented on ST3GAL5
Congenital disorders of glycosylation SRD5A3 Sarah Leigh marked SRD5A3 as ready
Congenital disorders of glycosylation SRD5A3 Sarah Leigh commented on SRD5A3
Congenital disorders of glycosylation SLC35D1 Sarah Leigh marked SLC35D1 as ready
Congenital disorders of glycosylation SLC35D1 Sarah Leigh commented on SLC35D1
Congenital disorders of glycosylation SLC35C1 Sarah Leigh marked SLC35C1 as ready
Congenital disorders of glycosylation SLC35C1 Sarah Leigh commented on SLC35C1
Congenital disorders of glycosylation SLC35A1 Sarah Leigh commented on SLC35A1
Congenital disorders of glycosylation SLC35A1 Sarah Leigh marked SLC35A1 as ready
Congenital disorders of glycosylation SLC35A1 Sarah Leigh classified SLC35A1 as amber
Congenital disorders of glycosylation SEC23B Sarah Leigh marked SEC23B as ready
Congenital disorders of glycosylation SEC23B Sarah Leigh commented on SEC23B
Congenital disorders of glycosylation RFT1 Sarah Leigh marked RFT1 as ready
Congenital disorders of glycosylation RFT1 Sarah Leigh commented on RFT1
Congenital disorders of glycosylation POMT2 Sarah Leigh marked POMT2 as ready
Congenital disorders of glycosylation POMT2 Sarah Leigh commented on POMT2
Congenital disorders of glycosylation POMT1 Sarah Leigh marked POMT1 as ready
Congenital disorders of glycosylation POMT1 Sarah Leigh commented on POMT1
Congenital disorders of glycosylation POMGNT1 Sarah Leigh marked POMGNT1 as ready
Congenital disorders of glycosylation POMGNT1 Sarah Leigh commented on POMGNT1
Congenital disorders of glycosylation PIGA Sarah Leigh marked PIGA as ready
Congenital disorders of glycosylation PIGA Sarah Leigh commented on PIGA
Congenital disorders of glycosylation PMM2 Sarah Leigh marked PMM2 as ready
Congenital disorders of glycosylation PMM2 Sarah Leigh commented on PMM2
Congenital disorders of glycosylation PIGV Sarah Leigh marked PIGV as ready
Congenital disorders of glycosylation PIGV Sarah Leigh commented on PIGV
Congenital disorders of glycosylation PIGO Sarah Leigh marked PIGO as ready
Congenital disorders of glycosylation PIGO Sarah Leigh commented on PIGO
Congenital disorders of glycosylation PGM1 Sarah Leigh marked PGM1 as ready
Congenital disorders of glycosylation PGM1 Sarah Leigh commented on PGM1
Congenital disorders of glycosylation PIGL Sarah Leigh marked PIGL as ready
Congenital disorders of glycosylation PIGL Sarah Leigh commented on PIGL
Congenital disorders of glycosylation PGAP2 Sarah Leigh marked PGAP2 as ready
Congenital disorders of glycosylation PGAP2 Sarah Leigh commented on PGAP2
Congenital disorders of glycosylation MPI Sarah Leigh marked MPI as ready
Congenital disorders of glycosylation MPI Sarah Leigh commented on MPI
Congenital disorders of glycosylation MPDU1 Sarah Leigh marked MPDU1 as ready
Congenital disorders of glycosylation MPDU1 Sarah Leigh commented on MPDU1
Congenital disorders of glycosylation MOGS Sarah Leigh marked MOGS as ready
Congenital disorders of glycosylation MOGS Sarah Leigh commented on MOGS
Congenital disorders of glycosylation MOGS Sarah Leigh classified MOGS as amber
Congenital disorders of glycosylation MGAT2 Sarah Leigh commented on MGAT2
Congenital disorders of glycosylation MGAT2 Sarah Leigh marked MGAT2 as ready
Congenital disorders of glycosylation MAN1B1 Sarah Leigh marked MAN1B1 as ready
Congenital disorders of glycosylation MAN1B1 Sarah Leigh commented on MAN1B1
Congenital disorders of glycosylation LFNG Sarah Leigh marked LFNG as ready
Congenital disorders of glycosylation LFNG Sarah Leigh commented on LFNG
Congenital disorders of glycosylation LFNG Sarah Leigh classified LFNG as red
Congenital disorders of glycosylation LARGE Sarah Leigh marked LARGE as ready
Congenital disorders of glycosylation LARGE Sarah Leigh commented on LARGE
Congenital disorders of glycosylation GNE Sarah Leigh marked GNE as ready
Congenital disorders of glycosylation GNE Sarah Leigh commented on GNE
Congenital disorders of glycosylation GFPT1 Sarah Leigh marked GFPT1 as ready
Congenital disorders of glycosylation GFPT1 Sarah Leigh commented on GFPT1
Congenital disorders of glycosylation GALNT3 Sarah Leigh commented on GALNT3
Congenital disorders of glycosylation GALNT3 Sarah Leigh marked GALNT3 as ready
Congenital disorders of glycosylation FKTN Sarah Leigh marked FKTN as ready
Congenital disorders of glycosylation FKTN Sarah Leigh commented on FKTN
Congenital disorders of glycosylation FKRP Sarah Leigh marked FKRP as ready
Congenital disorders of glycosylation FKRP Sarah Leigh commented on FKRP
Congenital disorders of glycosylation EXT2 Sarah Leigh marked EXT2 as ready
Congenital disorders of glycosylation EXT2 Sarah Leigh commented on EXT2
Congenital disorders of glycosylation EXT1 Sarah Leigh marked EXT1 as ready
Congenital disorders of glycosylation EXT1 Sarah Leigh commented on EXT1
Congenital disorders of glycosylation DPM3 Sarah Leigh classified DPM3 as red
Congenital disorders of glycosylation DPM3 Sarah Leigh marked DPM3 as ready
Congenital disorders of glycosylation DPM3 Sarah Leigh commented on DPM3
Congenital disorders of glycosylation DPM2 Sarah Leigh marked DPM2 as ready
Congenital disorders of glycosylation DPM2 Sarah Leigh commented on DPM2
Congenital disorders of glycosylation DPM2 Sarah Leigh classified DPM2 as red
Congenital disorders of glycosylation DPM1 Sarah Leigh marked DPM1 as ready
Congenital disorders of glycosylation DPM1 Sarah Leigh commented on DPM1
Congenital disorders of glycosylation DPAGT1 Sarah Leigh marked DPAGT1 as ready
Congenital disorders of glycosylation DPAGT1 Sarah Leigh commented on DPAGT1
Congenital disorders of glycosylation DOLK Sarah Leigh marked DOLK as ready
Congenital disorders of glycosylation DOLK Sarah Leigh commented on DOLK
Congenital disorders of glycosylation DHDDS Sarah Leigh marked DHDDS as ready
Congenital disorders of glycosylation DHDDS Sarah Leigh commented on DHDDS
Congenital disorders of glycosylation DHDDS Sarah Leigh classified DHDDS as red
Congenital disorders of glycosylation DDOST Sarah Leigh marked DDOST as ready
Congenital disorders of glycosylation DDOST Sarah Leigh commented on DDOST
Congenital disorders of glycosylation DDOST Sarah Leigh classified DDOST as red
Congenital disorders of glycosylation COG8 Sarah Leigh marked COG8 as ready
Congenital disorders of glycosylation COG8 Sarah Leigh commented on COG8
Congenital disorders of glycosylation COG7 Sarah Leigh marked COG7 as ready
Congenital disorders of glycosylation COG7 Sarah Leigh commented on COG7
Congenital disorders of glycosylation COG6 Sarah Leigh marked COG6 as ready
Congenital disorders of glycosylation COG6 Sarah Leigh commented on COG6
Congenital disorders of glycosylation COG5 Sarah Leigh marked COG5 as ready
Congenital disorders of glycosylation COG5 Sarah Leigh commented on COG5
Congenital disorders of glycosylation COG4 Sarah Leigh marked COG4 as ready
Congenital disorders of glycosylation COG4 Sarah Leigh commented on COG4
Congenital disorders of glycosylation COG1 Sarah Leigh marked COG1 as ready
Congenital disorders of glycosylation COG1 Sarah Leigh commented on COG1
Congenital disorders of glycosylation CHST6 Sarah Leigh marked CHST6 as ready
Congenital disorders of glycosylation CHST6 Sarah Leigh commented on CHST6
Congenital disorders of glycosylation CHST3 Sarah Leigh marked CHST3 as ready
Congenital disorders of glycosylation CHST3 Sarah Leigh commented on CHST3
Congenital disorders of glycosylation B4GALT7 Sarah Leigh marked B4GALT7 as ready
Congenital disorders of glycosylation B4GALT7 Sarah Leigh commented on B4GALT7
Congenital disorders of glycosylation B4GALT1 Sarah Leigh marked B4GALT1 as ready
Congenital disorders of glycosylation B4GALT1 Sarah Leigh commented on B4GALT1
Congenital disorders of glycosylation B3GALTL Sarah Leigh marked B3GALTL as ready
Congenital disorders of glycosylation ATP6V0A2 Sarah Leigh marked ATP6V0A2 as ready
Congenital disorders of glycosylation ATP6V0A2 Sarah Leigh commented on ATP6V0A2
Congenital disorders of glycosylation ALG9 Sarah Leigh marked ALG9 as ready
Congenital disorders of glycosylation ALG9 Sarah Leigh commented on ALG9
Congenital disorders of glycosylation ALG8 Sarah Leigh marked ALG8 as ready
Congenital disorders of glycosylation ALG8 Sarah Leigh commented on ALG8
Congenital disorders of glycosylation ALG6 Sarah Leigh marked ALG6 as ready
Congenital disorders of glycosylation ALG6 Sarah Leigh commented on ALG6
Congenital disorders of glycosylation ALG3 Sarah Leigh commented on ALG3
Congenital disorders of glycosylation ALG3 Sarah Leigh marked ALG3 as ready
Congenital disorders of glycosylation ALG2 Sarah Leigh marked ALG2 as ready
Congenital disorders of glycosylation ALG2 Sarah Leigh commented on ALG2
Congenital disorders of glycosylation ALG2 Sarah Leigh classified ALG2 as red
Congenital disorders of glycosylation ALG13 Sarah Leigh marked ALG13 as ready
Congenital disorders of glycosylation ALG13 Sarah Leigh commented on ALG13
Congenital disorders of glycosylation ALG13 Sarah Leigh classified ALG13 as red
Congenital disorders of glycosylation ALG12 Sarah Leigh marked ALG12 as ready
Congenital disorders of glycosylation ALG11 Sarah Leigh marked ALG11 as ready
Congenital disorders of glycosylation ALG11 Sarah Leigh commented on ALG11
Congenital disorders of glycosylation ALG1 Sarah Leigh marked ALG1 as ready
Congenital disorders of glycosylation ALG1 Sarah Leigh commented on ALG1
Congenital disorders of glycosylation TRAPPC11 Daniel Ungar added TRAPPC11 to panel
Congenital disorders of glycosylation TRAPPC11 Daniel Ungar reviewed TRAPPC11
Congenital disorders of glycosylation SSR4 Daniel Ungar reviewed SSR4
Congenital disorders of glycosylation SLC39A8 Daniel Ungar reviewed SLC39A8
Congenital disorders of glycosylation NUS1 Daniel Ungar reviewed NUS1
Congenital disorders of glycosylation NGLY1 Daniel Ungar reviewed NGLY1
Congenital disorders of glycosylation GLS Daniel Ungar reviewed GLS
Congenital disorders of glycosylation GALNT12 Daniel Ungar reviewed GALNT12
Congenital disorders of glycosylation TMEM199 Daniel Ungar commented on TMEM199
Congenital disorders of glycosylation ATP6AP1 Daniel Ungar added ATP6AP1 to panel
Congenital disorders of glycosylation ATP6AP1 Daniel Ungar reviewed ATP6AP1
Congenital disorders of glycosylation TMEM199 Daniel Ungar reviewed TMEM199
Congenital disorders of glycosylation CCDC115 Daniel Ungar reviewed CCDC115
Congenital disorders of glycosylation ST3GAL3 Daniel Ungar reviewed ST3GAL3
Congenital disorders of glycosylation SLC35A2 Daniel Ungar reviewed SLC35A2
Congenital disorders of glycosylation MAGT1 Daniel Ungar reviewed MAGT1
Congenital disorders of glycosylation CHSY1 Daniel Ungar reviewed CHSY1
Congenital disorders of glycosylation GORAB Daniel Ungar added GORAB to panel
Congenital disorders of glycosylation GORAB Daniel Ungar reviewed GORAB
Congenital disorders of glycosylation CHST14 Daniel Ungar reviewed CHST14
Congenital disorders of glycosylation C1GALT1C1 Daniel Ungar reviewed C1GALT1C1
Congenital disorders of glycosylation XYLT2 Daniel Ungar added XYLT2 to panel
Congenital disorders of glycosylation XYLT2 Daniel Ungar reviewed XYLT2
Congenital disorders of glycosylation XYLT1 Daniel Ungar added XYLT1 to panel
Congenital disorders of glycosylation XYLT1 Daniel Ungar reviewed XYLT1
Congenital disorders of glycosylation B3GALT6 Daniel Ungar added B3GALT6 to panel
Congenital disorders of glycosylation B3GALT6 Daniel Ungar reviewed B3GALT6
Congenital disorders of glycosylation B3GAT3 Daniel Ungar reviewed B3GAT3
Congenital disorders of glycosylation TUSC3 Daniel Ungar reviewed TUSC3
Congenital disorders of glycosylation TMEM165 Daniel Ungar reviewed TMEM165
Congenital disorders of glycosylation ST3GAL5 Daniel Ungar reviewed ST3GAL5
Congenital disorders of glycosylation SRD5A3 Daniel Ungar reviewed SRD5A3
Congenital disorders of glycosylation SLC35D1 Daniel Ungar reviewed SLC35D1
Congenital disorders of glycosylation SLC35C1 Daniel Ungar reviewed SLC35C1
Congenital disorders of glycosylation RFT1 Daniel Ungar reviewed RFT1
Congenital disorders of glycosylation PIGT Daniel Ungar added PIGT to panel
Congenital disorders of glycosylation PIGT Daniel Ungar reviewed PIGT
Congenital disorders of glycosylation PIGW Daniel Ungar added PIGW to panel
Congenital disorders of glycosylation PIGW Daniel Ungar reviewed PIGW
Congenital disorders of glycosylation PIGO Daniel Ungar reviewed PIGO
Congenital disorders of glycosylation PIGL Daniel Ungar reviewed PIGL
Congenital disorders of glycosylation PIGV Daniel Ungar reviewed PIGV
Congenital disorders of glycosylation PIGN Daniel Ungar edited their review of PIGN
Congenital disorders of glycosylation PIGN Daniel Ungar reviewed PIGN
Congenital disorders of glycosylation PIGM Daniel Ungar reviewed PIGM
Congenital disorders of glycosylation PGM1 Daniel Ungar reviewed PGM1
Congenital disorders of glycosylation PIGA Daniel Ungar reviewed PIGA
Congenital disorders of glycosylation PGAP3 Daniel Ungar added PGAP3 to panel
Congenital disorders of glycosylation PGAP3 Daniel Ungar reviewed PGAP3
Congenital disorders of glycosylation PGAP2 Daniel Ungar reviewed PGAP2
Congenital disorders of glycosylation MPDU1 Daniel Ungar reviewed MPDU1
Congenital disorders of glycosylation MOGS Daniel Ungar reviewed MOGS
Congenital disorders of glycosylation SEC23B Daniel Ungar edited their review of SEC23B
Congenital disorders of glycosylation MGAT2 Daniel Ungar reviewed MGAT2
Congenital disorders of glycosylation MAN1B1 Daniel Ungar reviewed MAN1B1
Congenital disorders of glycosylation LFNG Daniel Ungar reviewed LFNG
Congenital disorders of glycosylation SLC35A3 Daniel Ungar added SLC35A3 to panel
Congenital disorders of glycosylation SLC35A3 Daniel Ungar reviewed SLC35A3
Congenital disorders of glycosylation SLC35A1 Daniel Ungar reviewed SLC35A1
Congenital disorders of glycosylation GNE Daniel Ungar reviewed GNE
Congenital disorders of glycosylation PGM3 Daniel Ungar added PGM3 to panel
Congenital disorders of glycosylation PGM3 Daniel Ungar reviewed PGM3
Congenital disorders of glycosylation B3GALNT2 Daniel Ungar added B3GALNT2 to panel
Congenital disorders of glycosylation B3GALNT2 Daniel Ungar reviewed B3GALNT2
Congenital disorders of glycosylation POMGNT2 Daniel Ungar added POMGNT2 to panel
Congenital disorders of glycosylation POMGNT2 Daniel Ungar reviewed POMGNT2
Congenital disorders of glycosylation GALNT3 Daniel Ungar reviewed GALNT3
Congenital disorders of glycosylation CAD Daniel Ungar reviewed CAD
Congenital disorders of glycosylation MPI Daniel Ungar reviewed MPI
Congenital disorders of glycosylation STT3B Daniel Ungar reviewed STT3B
Congenital disorders of glycosylation ISPD Daniel Ungar added ISPD to panel
Congenital disorders of glycosylation ISPD Daniel Ungar reviewed ISPD
Congenital disorders of glycosylation GFPT1 Daniel Ungar commented on GFPT1
Congenital disorders of glycosylation GFPT1 Daniel Ungar reviewed GFPT1
Congenital disorders of glycosylation ALG14 Daniel Ungar reviewed ALG14
Congenital disorders of glycosylation GMPPB Daniel Ungar edited their review of GMPPB
Congenital disorders of glycosylation GMPPB Daniel Ungar added GMPPB to panel
Congenital disorders of glycosylation GMPPB Daniel Ungar reviewed GMPPB
Congenital disorders of glycosylation TMEM5 Daniel Ungar added TMEM5 to panel
Congenital disorders of glycosylation TMEM5 Daniel Ungar reviewed TMEM5
Congenital disorders of glycosylation STT3A Daniel Ungar reviewed STT3A
Congenital disorders of glycosylation POMT2 Daniel Ungar reviewed POMT2
Congenital disorders of glycosylation POMT1 Daniel Ungar reviewed POMT1
Congenital disorders of glycosylation POMGNT1 Daniel Ungar reviewed POMGNT1
Congenital disorders of glycosylation LARGE Daniel Ungar reviewed LARGE
Congenital disorders of glycosylation FKRP Daniel Ungar commented on FKRP
Congenital disorders of glycosylation FKTN Daniel Ungar reviewed FKTN
Congenital disorders of glycosylation FKRP Daniel Ungar reviewed FKRP
Congenital disorders of glycosylation EXT2 Daniel Ungar reviewed EXT2
Congenital disorders of glycosylation EXT1 Daniel Ungar reviewed EXT1
Congenital disorders of glycosylation DPM3 Daniel Ungar reviewed DPM3
Congenital disorders of glycosylation DPM2 Daniel Ungar reviewed DPM2
Congenital disorders of glycosylation DPM1 Daniel Ungar reviewed DPM1
Congenital disorders of glycosylation DPAGT1 Daniel Ungar reviewed DPAGT1
Congenital disorders of glycosylation DOLK Daniel Ungar reviewed DOLK
Congenital disorders of glycosylation DHDDS Daniel Ungar reviewed DHDDS
Congenital disorders of glycosylation COG2 Daniel Ungar added COG2 to panel
Congenital disorders of glycosylation COG2 Daniel Ungar reviewed COG2
Congenital disorders of glycosylation DDOST Daniel Ungar reviewed DDOST
Congenital disorders of glycosylation COG8 Daniel Ungar reviewed COG8
Congenital disorders of glycosylation COG6 Daniel Ungar reviewed COG6
Congenital disorders of glycosylation COG5 Daniel Ungar reviewed COG5
Congenital disorders of glycosylation CHST6 Daniel Ungar reviewed CHST6
Congenital disorders of glycosylation CHST3 Daniel Ungar reviewed CHST3
Congenital disorders of glycosylation B4GALT7 Daniel Ungar reviewed B4GALT7
Congenital disorders of glycosylation B4GALT1 Daniel Ungar reviewed B4GALT1
Congenital disorders of glycosylation SEC23B Daniel Ungar reviewed SEC23B
Congenital disorders of glycosylation B3GALTL Daniel Ungar reviewed B3GALTL
Congenital disorders of glycosylation ATP6V0A2 Daniel Ungar edited their review of ATP6V0A2
Congenital disorders of glycosylation ALG9 Daniel Ungar reviewed ALG9
Congenital disorders of glycosylation ALG8 Daniel Ungar reviewed ALG8
Congenital disorders of glycosylation ALG6 Daniel Ungar reviewed ALG6
Congenital disorders of glycosylation PMM2 Daniel Ungar reviewed PMM2
Congenital disorders of glycosylation COG7 Daniel Ungar reviewed COG7
Congenital disorders of glycosylation LARGE Louise Daugherty commented on LARGE
Congenital disorders of glycosylation B3GALTL Louise Daugherty commented on B3GALTL
Congenital disorders of glycosylation ATP6V0A2 Daniel Ungar reviewed ATP6V0A2
Congenital disorders of glycosylation ALG12 Daniel Ungar edited their review of ALG12
Congenital disorders of glycosylation ALG3 Daniel Ungar reviewed ALG3
Congenital disorders of glycosylation ALG2 Daniel Ungar reviewed ALG2
Congenital disorders of glycosylation ALG13 Daniel Ungar reviewed ALG13
Congenital disorders of glycosylation ALG12 Daniel Ungar reviewed ALG12
Congenital disorders of glycosylation ALG11 Daniel Ungar reviewed ALG11
Congenital disorders of glycosylation COG1 Daniel Ungar commented on COG1
Congenital disorders of glycosylation COG4 Daniel Ungar commented on COG4
Congenital disorders of glycosylation COG1 Daniel Ungar edited their review of COG1
Congenital disorders of glycosylation COG4 Daniel Ungar reviewed COG4
Congenital disorders of glycosylation COG1 Daniel Ungar reviewed COG1
Congenital disorders of glycosylation ALG1 Daniel Ungar reviewed ALG1
Congenital disorders of glycosylation ALG12 Sarah Leigh commented on ALG12
Congenital disorders of glycosylation B3GALTL Sarah Leigh commented on B3GALTL
Congenital disorders of glycosylation Ellen McDonagh approved panel