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Congenital Disorders of Glycosylation v1.58 PIGF Sangavi Sivagnanasundram reviewed gene: PIGF: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008517; Phenotypes: onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome MONDO:0859161; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v1.58 DHDDS Zornitza Stark Publications for gene: DHDDS were set to 27343064
Congenital Disorders of Glycosylation v1.57 DHDDS Zornitza Stark Classified gene: DHDDS as Green List (high evidence)
Congenital Disorders of Glycosylation v1.57 DHDDS Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v1.56 DHDDS Zornitza Stark edited their review of gene: DHDDS: Added comment: ClinGen have lumped the CDG together with the RP -- likely represent a continuum of severity rather than distinct disorders.; Changed rating: GREEN; Changed publications: 27343064, 21295283, 28130426, 29276052, 32483926, 36046393, 24078709, 28005406, 36046393
Congenital Disorders of Glycosylation v1.56 DHRSX Zornitza Stark Phenotypes for gene: DHRSX were changed from congenital disorder of glycosylation, MONDO:0015286, DHRSX-related to Congenital disorder of glycosylation, type 1DD, MIM# 301133
Congenital Disorders of Glycosylation v1.55 POMT1 Ain Roesley Phenotypes for gene: POMT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1 613155
Congenital Disorders of Glycosylation v1.54 CAMLG Sangavi Sivagnanasundram reviewed gene: CAMLG: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008383; Phenotypes: congenital disorder of glycosylation, type IIz MONDO:0859357; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v1.54 COG3 Sangavi Sivagnanasundram reviewed gene: COG3: Rating: AMBER; Mode of pathogenicity: Other; Publications: https://search.clinicalgenome.org/CCID:008379; Phenotypes: congenital disorder of glycosylation MONDO:0015286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v1.54 MAN2B2 Bryony Thompson Phenotypes for gene: MAN2B2 were changed from ongenital disorder of glycosylation, MONDO:0015286, MAN2B2-related to Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related
Congenital Disorders of Glycosylation v1.53 MAN2B2 Bryony Thompson Publications for gene: MAN2B2 were set to 31775018; 35637269
Congenital Disorders of Glycosylation v1.52 MAN2B2 Bryony Thompson reviewed gene: MAN2B2: Rating: AMBER; Mode of pathogenicity: None; Publications: 38622837, 35637269, 31775018; Phenotypes: Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v1.52 DHRSX Zornitza Stark Phenotypes for gene: DHRSX were changed from congenital disorder of glycosylation, MONDO:0015286, DHRSX-related to congenital disorder of glycosylation, MONDO:0015286, DHRSX-related
Congenital Disorders of Glycosylation v1.51 DHRSX Zornitza Stark Phenotypes for gene: DHRSX were changed from congenital disorder of glycosylation, MONDO:0015286, DHRSX-related to congenital disorder of glycosylation, MONDO:0015286, DHRSX-related
Congenital Disorders of Glycosylation v1.50 DHRSX Zornitza Stark Phenotypes for gene: DHRSX were changed from congenital disorder of glycosylation, MONDO:0015286, DHSRX-related to congenital disorder of glycosylation, MONDO:0015286, DHRSX-related
Congenital Disorders of Glycosylation v1.49 DHRSX Zornitza Stark edited their review of gene: DHRSX: Changed phenotypes: congenital disorder of glycosylation, MONDO:0015286, DHRSX-related
Congenital Disorders of Glycosylation v1.49 DHRSX Zornitza Stark Marked gene: DHRSX as ready
Congenital Disorders of Glycosylation v1.49 DHRSX Zornitza Stark Gene: dhrsx has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v1.49 DHRSX Zornitza Stark Classified gene: DHRSX as Green List (high evidence)
Congenital Disorders of Glycosylation v1.49 DHRSX Zornitza Stark Gene: dhrsx has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v1.48 DHRSX Zornitza Stark gene: DHRSX was added
gene: DHRSX was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: DHRSX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHRSX were set to 38821050
Phenotypes for gene: DHRSX were set to congenital disorder of glycosylation, MONDO:0015286, DHSRX-related
Review for gene: DHRSX was set to GREEN
Added comment: PMID:38821050 reported the identification of biallelic missense variants in DHRSX gene in four patients from three unrelated families with a congenital disorder of glycosylation. They displayed distinct facial features, severe neurological involvement including hypotonia, scoliosis, contractures, profound intellectual disability, epilepsy, and sensorineural hearing loss. These patients also experienced severe failure to thrive (requiring tube feeding); variable respiratory insufficiency; and involvement of the eyes, the gastrointestinal system, and other organs.

Note gene is in PAR.
Sources: Literature
Congenital Disorders of Glycosylation v1.47 GMPPB Ain Roesley 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 (MIM# 615350); Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352)
Congenital Disorders of Glycosylation v1.46 GMPPA Ain Roesley Phenotypes for gene: GMPPA were changed from Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510) to Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)
Congenital Disorders of Glycosylation v1.46 GMPPA Ain Roesley Phenotypes for gene: GMPPA were changed from Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510) to Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)
Congenital Disorders of Glycosylation v1.46 GMPPA Ain Roesley Phenotypes for gene: GMPPA were changed from Alacrima, achalasia, and mental retardation syndrome (MIM# 615510) to Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)
Congenital Disorders of Glycosylation v1.45 ST3GAL3 Zornitza Stark Phenotypes for gene: ST3GAL3 were changed from Mental retardation, autosomal recessive 12 MIM# 611090 to Intellectual disability, autosomal recessive 12 MIM# 611090
Congenital Disorders of Glycosylation v1.44 ST3GAL3 Zornitza Stark edited their review of gene: ST3GAL3: Changed phenotypes: Intellectual disability, autosomal recessive 12 MIM# 611090
Congenital Disorders of Glycosylation v1.44 DDOST Achchuthan Shanmugasundram changed review comment from: PMID:34462534 reported the identification of homozygous DDOST variant (c.1187G>A) in a Chinese patient who presented with feeding difficulty, lactose intolerance, facial dysmorphism, failure to thrive, strabismus, high myopia, astigmatism, hypotonia, developmental delay and situs inversus totalis. Serum transferrin isoelectrofocusing demonstrated defective glycosylation in the patient. T; to: PMID:34462534 reported the identification of homozygous DDOST variant (c.1187G>A) in a Chinese patient who presented with feeding difficulty, lactose intolerance, facial dysmorphism, failure to thrive, strabismus, high myopia, astigmatism, hypotonia, developmental delay and situs inversus totalis. Serum transferrin isoelectrofocusing demonstrated defective glycosylation in the patient.
Congenital Disorders of Glycosylation v1.44 DDOST Achchuthan Shanmugasundram reviewed gene: DDOST: Rating: GREEN; Mode of pathogenicity: None; Publications: 34462534; Phenotypes: Congenital disorder of glycosylation, type Ir, OMIM:614507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v1.44 FUK Zornitza Stark Publications for gene: FUK were set to 30503518
Congenital Disorders of Glycosylation v1.43 FUK Zornitza Stark Classified gene: FUK as Green List (high evidence)
Congenital Disorders of Glycosylation v1.43 FUK Zornitza Stark Gene: fuk has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v1.42 FUK Zornitza Stark edited their review of gene: FUK: Added comment: PMID: 35718084: Reporting on 3 unrelated patients from literature and 1 new patient. All reported to have mild-severe intellectual disability, developmental delay and brain abnormalities, and 3/4 present with seizures. Phenotypes are childhood onset. Homozygous and compound heterozygous variants have been reported.

PMID: 36426412: Reporting on new 1 patient (homozygous missense). Not affected by intellectual disability, developmental delay, or brain abnormalities. Presents with seizures. Loss of function suggested due to depletion of the FUK gene expression.; Changed rating: GREEN; Changed publications: 30503518, 35718084, 36426412; Changed phenotypes: Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324
Congenital Disorders of Glycosylation v1.42 MAN2B2 Zornitza Stark Phenotypes for gene: MAN2B2 were changed from Congenital disorder of glycosylation; immunodeficiency to ongenital disorder of glycosylation, MONDO:0015286, MAN2B2-related
Congenital Disorders of Glycosylation v1.41 MAN2B2 Zornitza Stark Publications for gene: MAN2B2 were set to 31775018
Congenital Disorders of Glycosylation v1.40 MAN2B2 Zornitza Stark Classified gene: MAN2B2 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v1.40 MAN2B2 Zornitza Stark Gene: man2b2 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v1.39 MAN2B2 Zornitza Stark edited their review of gene: MAN2B2: Added comment: PMID:35637269 describes a second case of a patient with developmental delay and dysmorphic features, but no immune phenotype with compound heterozygous variants (p.Ser147del and p.Glu790Lys).; Changed rating: AMBER; Changed publications: 31775018, 35637269; Changed phenotypes: Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related
Congenital Disorders of Glycosylation v1.39 COG3 Zornitza Stark Marked gene: COG3 as ready
Congenital Disorders of Glycosylation v1.39 COG3 Zornitza Stark Gene: cog3 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v1.39 COG3 Zornitza Stark Classified gene: COG3 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v1.39 COG3 Zornitza Stark Gene: cog3 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v1.38 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 v1.37 CSGALNACT1 Zornitza Stark 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, MIM# 618870
Congenital Disorders of Glycosylation v1.36 CSGALNACT1 Zornitza Stark edited their review of gene: CSGALNACT1: Changed phenotypes: Congenital disorder of glycosylation, Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870
Congenital Disorders of Glycosylation v1.36 ALG10 Zornitza Stark Phenotypes for gene: ALG10 were changed from Progressive myoclonus epilepsy; CDG to Congenital disorder of glycosylation, MONDO:0015286, ALG10-related
Congenital Disorders of Glycosylation v1.35 STX5 Ain Roesley Marked gene: STX5 as ready
Congenital Disorders of Glycosylation v1.35 STX5 Ain Roesley Gene: stx5 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v1.35 STX5 Ain Roesley Classified gene: STX5 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v1.35 STX5 Ain Roesley Gene: stx5 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v1.34 STX5 Ain Roesley gene: STX5 was added
gene: STX5 was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: STX5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STX5 were set to 34711829
Phenotypes for gene: STX5 were set to congenital disorder of glycosylation MONDO#0015286, STX5-related
Review for gene: STX5 was set to AMBER
gene: STX5 was marked as current diagnostic
Added comment: 1x family with 3x deceased shortly after death + 3x spontaneous abortions + 2x abortions due to abnormal fatal ultrasound (US).
Hom for NM_003164.4:c.163 A > G p.(Met55Val), which results in complete loss of short isoform (which uses Met55 as the start)

phenotype: short long bones on US, dysmorphism, skeletal dysplasia, profound hypotonia, hepatomegaly elevated cholesterol.
Post-natally they died of progressive liver failure with cholestasis and hyperinsulinemic hypoglycemias

Primary human dermal fibroblasts isolated from these patients show defective glycosylation, altered Golgi morphology as measured by electron microscopy, mislocalization of glycosyltransferases, and compromised ER-Golgi trafficking
Sources: Literature
Congenital Disorders of Glycosylation v1.33 CAMLG Seb Lunke Classified gene: CAMLG as Red List (low evidence)
Congenital Disorders of Glycosylation v1.33 CAMLG Seb Lunke Gene: camlg has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v1.32 CAMLG Seb Lunke Marked gene: CAMLG as ready
Congenital Disorders of Glycosylation v1.32 CAMLG Seb Lunke Gene: camlg has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v1.32 CAMLG Seb Lunke Classified gene: CAMLG as Red List (low evidence)
Congenital Disorders of Glycosylation v1.32 CAMLG Seb Lunke Gene: camlg has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v1.31 CAMLG Manny Jacobs 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 PMID: 35262690
Phenotypes for gene: CAMLG were set to Congenital disorder of glycosylation type IIz, OMIM #: 620201
Penetrance for gene: CAMLG were set to unknown
Review for gene: CAMLG was set to RED
Added comment: PMID: 35262690 (2022)
Report one patient with hom splice variant. No other reported patients.
GDD, seizures, contractures, hypotonia and brain malformations.
Sources: Literature
Congenital Disorders of Glycosylation v1.31 GET4 Elena Savva Marked gene: GET4 as ready
Congenital Disorders of Glycosylation v1.31 GET4 Elena Savva Gene: get4 has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v1.31 GET4 Elena Savva gene: GET4 was added
gene: GET4 was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: GET4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GET4 were set to 32395830
Phenotypes for gene: GET4 were set to ?Congenital disorder of glycosylation,, type IIy MIM#620200
Review for gene: GET4 was set to RED
Added comment: PMID: 32395830
- chet patient (missense x2), functionally shown to result in downregulation of three TRC proteins in patient cell lines.
- patient phenotype included ID, DD, seizures, dysmorphism and delayed bone age.
- functional studies on missense themselves not performed
Sources: Literature
Congenital Disorders of Glycosylation v1.30 Zornitza Stark List of related panels changed from to Abnormal transferrin saturation; HP:0040135
Congenital Disorders of Glycosylation v1.29 MAN2A2 Zornitza Stark Marked gene: MAN2A2 as ready
Congenital Disorders of Glycosylation v1.29 MAN2A2 Zornitza Stark Gene: man2a2 has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v1.29 MAN2A2 Zornitza Stark gene: MAN2A2 was added
gene: MAN2A2 was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: MAN2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2A2 were set to 36357165
Phenotypes for gene: MAN2A2 were set to Congenital disorder of glycosylation, MONDO:0015286, MAN2A2-reated
Review for gene: MAN2A2 was set to RED
Added comment: Single consanguineous family reported with homozygous truncating variant in two brothers with ID. Supportive biochemical data only.
Sources: Literature
Congenital Disorders of Glycosylation v1.28 PGM1 Zornitza Stark Tag treatable tag was added to gene: PGM1.
Congenital Disorders of Glycosylation v1.28 TRAPPC9 Zornitza Stark reviewed gene: TRAPPC9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal recessive 13, MIM# 613192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v1.28 TRAPPC9 Alison Yeung Classified gene: TRAPPC9 as Green List (high evidence)
Congenital Disorders of Glycosylation v1.28 TRAPPC9 Alison Yeung Gene: trappc9 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v1.27 TRAPPC9 Alison Yeung Classified gene: TRAPPC9 as Green List (high evidence)
Congenital Disorders of Glycosylation v1.27 TRAPPC9 Alison Yeung Gene: trappc9 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v1.27 TRAPPC9 Alison Yeung Marked gene: TRAPPC9 as ready
Congenital Disorders of Glycosylation v1.27 TRAPPC9 Alison Yeung Gene: trappc9 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v1.27 TRAPPC9 Alison Yeung Classified gene: TRAPPC9 as Green List (high evidence)
Congenital Disorders of Glycosylation v1.27 TRAPPC9 Alison Yeung Gene: trappc9 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v1.27 TRAPPC9 Alison Yeung Classified gene: TRAPPC9 as Green List (high evidence)
Congenital Disorders of Glycosylation v1.27 TRAPPC9 Alison Yeung Gene: trappc9 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v1.26 TRAPPC9 Elena Savva Phenotypes for gene: TRAPPC9 were changed from Intellectual developmental disorder, autosomal recessive 13 MIM#613192 to Intellectual developmental disorder, autosomal recessive 13 MIM#613192
Congenital Disorders of Glycosylation v1.26 TRAPPC9 Elena Savva changed review comment from: PMID: 35042660 - 3 individuals with biallelic missense variants. Patients had ID, dysmorphism
and abnormal glycosylation.
Western blot demonstrated reduced TRAPPC9 protein expression, RT-PCR showed reduced gene expression with complementation assays rescuing the phenotype but only shown for 2/3 missense found.
No functional studies performed on the 3rd missense variant.
Sources: Literature; to: PMID: 35042660 - 3 individuals with biallelic missense variants. Patients had ID, dysmorphism
and abnormal glycosylation.
Western blot demonstrated reduced TRAPPC9 protein expression, RT-PCR showed reduced gene expression with complementation assays rescuing the phenotype but only shown for 2/3 missense found.
No functional studies performed on the 3rd missense variant.
Sources: Literature
Congenital Disorders of Glycosylation v1.26 TRAPPC9 Elena Savva Phenotypes for gene: TRAPPC9 were changed from to Intellectual developmental disorder, autosomal recessive 13 MIM#613192
Congenital Disorders of Glycosylation v1.25 TRAPPC9 Elena Savva gene: TRAPPC9 was added
gene: TRAPPC9 was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC9 were set to PMID: 35042660
Review for gene: TRAPPC9 was set to AMBER
Added comment: PMID: 35042660 - 3 individuals with biallelic missense variants. Patients had ID, dysmorphism
and abnormal glycosylation.
Western blot demonstrated reduced TRAPPC9 protein expression, RT-PCR showed reduced gene expression with complementation assays rescuing the phenotype but only shown for 2/3 missense found.
No functional studies performed on the 3rd missense variant.
Sources: Literature
Congenital Disorders of Glycosylation v1.24 ATP6AP2 Bryony Thompson Mode of inheritance for gene: ATP6AP2 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital Disorders of Glycosylation v1.23 STT3A Zornitza Stark Phenotypes for gene: STT3A were changed from Congenital disorder of glycosylation, type Iw; OMIM #615596 to Congenital disorder of glycosylation, type Iw, AR, OMIM #615596; Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714
Congenital Disorders of Glycosylation v1.22 STT3A Zornitza Stark edited their review of gene: STT3A: Changed phenotypes: Congenital disorder of glycosylation, type Iw, AR, OMIM #615596, Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714
Congenital Disorders of Glycosylation v1.22 STT3A Zornitza Stark Publications for gene: STT3A were set to 23842455; 30701557; 28424003
Congenital Disorders of Glycosylation v1.21 STT3A Zornitza Stark 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 v1.20 STT3A Elena Savva reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34653363, 23842455, 30701557, 28424003; Phenotypes: Congenital disorder of glycosylation, type Iw MIM#615596; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v1.20 OSTC Zornitza Stark Marked gene: OSTC as ready
Congenital Disorders of Glycosylation v1.20 OSTC Zornitza Stark Gene: ostc has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v1.20 OSTC Zornitza Stark Classified gene: OSTC as Red List (low evidence)
Congenital Disorders of Glycosylation v1.20 OSTC Zornitza Stark Gene: ostc has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v1.19 OSTC Belinda Chong 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 PMID: 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
Sources: Literature
Congenital Disorders of Glycosylation v1.19 ALG10 Zornitza Stark Marked gene: ALG10 as ready
Congenital Disorders of Glycosylation v1.19 ALG10 Zornitza Stark Gene: alg10 has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v1.19 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 v1.18 SLC37A4 Zornitza Stark Phenotypes for gene: SLC37A4 were changed from Congenital disorder of glycosylation type II to Congenital disorder of glycosylation, type IIw, MIM# 619525
Congenital Disorders of Glycosylation v1.17 SLC37A4 Zornitza Stark edited their review of gene: SLC37A4: Changed phenotypes: Congenital disorder of glycosylation, type IIw 619525
Congenital Disorders of Glycosylation v1.17 EDEM3 Zornitza Stark Phenotypes for gene: EDEM3 were changed from Congenital disorder of glycosylation; Developmental delay to Congenital disorder of glycosylation, type 2V, MIM# 619493
Congenital Disorders of Glycosylation v1.16 EDEM3 Zornitza Stark edited their review of gene: EDEM3: Changed rating: GREEN
Congenital Disorders of Glycosylation v1.16 EDEM3 Zornitza Stark reviewed gene: EDEM3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type 2V, MIM# 619493; Mode of inheritance: None
Congenital Disorders of Glycosylation v1.16 EDEM3 Seb Lunke Phenotypes for gene: EDEM3 were changed from EDEM3-congenital disorder of glycosylation to Congenital disorder of glycosylation; Developmental delay
Congenital Disorders of Glycosylation v1.15 EDEM3 Seb Lunke Marked gene: EDEM3 as ready
Congenital Disorders of Glycosylation v1.15 EDEM3 Seb Lunke Gene: edem3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v1.15 EDEM3 Seb Lunke Classified gene: EDEM3 as Green List (high evidence)
Congenital Disorders of Glycosylation v1.15 EDEM3 Seb Lunke Gene: edem3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v1.14 EDEM3 Michelle Torres 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 EDEM3-congenital disorder of glycosylation
Review for gene: EDEM3 was set to GREEN
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 show LoF of EDEM3 enzymatic activity.
Sources: Literature
Sources: Literature
Congenital Disorders of Glycosylation v1.14 PIGF Zornitza Stark Phenotypes for gene: PIGF were changed from Glycosylphosphatidylinositol deficiency, onychodystrophy, osteodystrophy, intellectual disability, and seizures to Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356
Congenital Disorders of Glycosylation v1.13 PIGF Zornitza Stark edited their review of gene: PIGF: Changed rating: RED
Congenital Disorders of Glycosylation v1.13 PIGF Zornitza Stark reviewed gene: PIGF: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v1.13 SLC37A4 Sue White Classified gene: SLC37A4 as Green List (high evidence)
Congenital Disorders of Glycosylation v1.13 SLC37A4 Sue White Gene: slc37a4 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v1.12 SLC37A4 Sue White reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital Disorders of Glycosylation v1.12 SLC37A4 Paul De Fazio reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 33964207; Phenotypes: Congenital disorder of glycosylation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital Disorders of Glycosylation v1.12 SLC37A4 Zornitza Stark Phenotypes for gene: SLC37A4 were changed from Congenital disorder of glycosylation to Congenital disorder of glycosylation type II
Congenital Disorders of Glycosylation v1.11 SLC37A4 Zornitza Stark Publications for gene: SLC37A4 were set to 32884905
Congenital Disorders of Glycosylation v1.10 SLC37A4 Zornitza Stark Classified gene: SLC37A4 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v1.10 SLC37A4 Zornitza Stark Gene: slc37a4 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v1.9 SLC37A4 Kristin Rigbye reviewed gene: SLC37A4: Rating: AMBER; Mode of pathogenicity: None; Publications: 33728255; Phenotypes: Congenital disorder of glycosylation type II; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Disorders of Glycosylation v1.9 ST3GAL3 Zornitza Stark Publications for gene: ST3GAL3 were set to 23252400; 21907012
Congenital Disorders of Glycosylation v1.8 ST3GAL3 Zornitza Stark Classified gene: ST3GAL3 as Green List (high evidence)
Congenital Disorders of Glycosylation v1.8 ST3GAL3 Zornitza Stark Gene: st3gal3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v1.7 ST3GAL3 Zornitza Stark reviewed gene: ST3GAL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31584066; Phenotypes: Mental retardation, autosomal recessive 12 MIM# 611090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v1.7 PIGF Zornitza Stark Marked gene: PIGF as ready
Congenital Disorders of Glycosylation v1.7 PIGF Zornitza Stark Gene: pigf has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v1.7 PIGF Zornitza Stark Classified gene: PIGF as Red List (low evidence)
Congenital Disorders of Glycosylation v1.7 PIGF Zornitza Stark Gene: pigf has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v1.6 PIGF Paul De Fazio gene: PIGF was added
gene: PIGF was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: PIGF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGF were set to 33386993
Phenotypes for gene: PIGF were set to Glycosylphosphatidylinositol deficiency, onychodystrophy, osteodystrophy, intellectual disability, and seizures
Review for gene: PIGF was set to RED
gene: PIGF was marked as current diagnostic
Added comment: The same homozygous missense variant identified in 2 individuals from different families from the same region of India. Individuals had a phenotype similar to DOORS syndrome without deafness. Impaired glycosylphosphatidylinositol (GPI) biosynthesis was demonstrated.

Rated Red as the two families are likely to be related (founder mutation?).
Sources: Literature
Congenital Disorders of Glycosylation v1.6 POFUT1 Zornitza Stark Phenotypes for gene: POFUT1 were changed from to Dowling-Degos disease 2 (MIM# 615327)
Congenital Disorders of Glycosylation v1.5 POFUT1 Zornitza Stark Publications for gene: POFUT1 were set to
Congenital Disorders of Glycosylation v1.4 PIGM Zornitza Stark Phenotypes for gene: PIGM were changed from portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events; portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events to Glycosylphosphatidylinositol deficiency, MIM# 610293; portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events; portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events
Congenital Disorders of Glycosylation v1.3 PIGM Zornitza Stark reviewed gene: PIGM: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycosylphosphatidylinositol deficiency, MIM# 610293; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v1.3 GMPPA Zornitza Stark Phenotypes for gene: GMPPA were changed from to Alacrima, achalasia, and mental retardation syndrome (MIM# 615510)
Congenital Disorders of Glycosylation v1.2 GMPPA Zornitza Stark Publications for gene: GMPPA were set to
Congenital Disorders of Glycosylation v1.1 GALNT2 Zornitza Stark Phenotypes for gene: GALNT2 were changed from Congenital disorder of glycosylation to Congenital disorder of glycosylation, type IIt, MIM# 618885
Congenital Disorders of Glycosylation v1.0 GALNT2 Zornitza Stark edited their review of gene: GALNT2: Changed phenotypes: Congenital disorder of glycosylation, type IIt, MIM# 618885
Congenital Disorders of Glycosylation v1.0 Zornitza Stark promoted panel to version 1.0
Congenital Disorders of Glycosylation v0.370 XYLT1 Zornitza Stark Marked gene: XYLT1 as ready
Congenital Disorders of Glycosylation v0.370 XYLT1 Zornitza Stark Gene: xylt1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.370 XYLT1 Zornitza Stark Phenotypes for gene: XYLT1 were changed from to Desbuquois dysplasia 2, MIM# 615777; Baratela-Scott syndrome
Congenital Disorders of Glycosylation v0.369 XYLT1 Zornitza Stark Publications for gene: XYLT1 were set to
Congenital Disorders of Glycosylation v0.368 XYLT1 Zornitza Stark Mode of inheritance for gene: XYLT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.367 XYLT1 Zornitza Stark Tag SV/CNV tag was added to gene: XYLT1.
Tag STR tag was added to gene: XYLT1.
Congenital Disorders of Glycosylation v0.367 XYLT1 Zornitza Stark reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30554721, 24581741, 23982343; Phenotypes: Desbuquois dysplasia 2, MIM# 615777, Baratela-Scott syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.367 TUSC3 Zornitza Stark Marked gene: TUSC3 as ready
Congenital Disorders of Glycosylation v0.367 TUSC3 Zornitza Stark Gene: tusc3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.367 TUSC3 Zornitza Stark Phenotypes for gene: TUSC3 were changed from to Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615; TUSC3-CDG (Disorders of protein N-glycosylation)
Congenital Disorders of Glycosylation v0.366 TUSC3 Zornitza Stark Publications for gene: TUSC3 were set to
Congenital Disorders of Glycosylation v0.365 TUSC3 Zornitza Stark Mode of inheritance for gene: TUSC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.364 TUSC3 Zornitza Stark Tag SV/CNV tag was added to gene: TUSC3.
Congenital Disorders of Glycosylation v0.364 TUSC3 Zornitza Stark reviewed gene: TUSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18452889, 18455129, 21739581, 27148795, 31606977; Phenotypes: Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615, TUSC3-CDG (Disorders of protein N-glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.364 TMEM5 Zornitza Stark commented on gene: TMEM5: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. Brain imaging shows cobblestone lissencephaly. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB).
Congenital Disorders of Glycosylation v0.364 TMEM5 Zornitza Stark Tag new gene name tag was added to gene: TMEM5.
Congenital Disorders of Glycosylation v0.364 TMEM5 Zornitza Stark Marked gene: TMEM5 as ready
Congenital Disorders of Glycosylation v0.364 TMEM5 Zornitza Stark Gene: tmem5 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.364 TMEM5 Zornitza Stark Phenotypes for gene: TMEM5 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041, MONDO:0014022
Congenital Disorders of Glycosylation v0.363 TMEM5 Zornitza Stark Publications for gene: TMEM5 were set to
Congenital Disorders of Glycosylation v0.362 TMEM5 Zornitza Stark Mode of inheritance for gene: TMEM5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.361 TMEM5 Zornitza Stark reviewed gene: TMEM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23217329, 23519211, 30017359, 27733679, 27212206; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041, MONDO:0014022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.361 TMEM165 Zornitza Stark Marked gene: TMEM165 as ready
Congenital Disorders of Glycosylation v0.361 TMEM165 Zornitza Stark Gene: tmem165 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.361 TMEM165 Zornitza Stark Phenotypes for gene: TMEM165 were changed from to Congenital disorder of glycosylation, type IIk, MIM# 614727; TMEM165-CDG, MONDO:0013870
Congenital Disorders of Glycosylation v0.360 TMEM165 Zornitza Stark Publications for gene: TMEM165 were set to
Congenital Disorders of Glycosylation v0.359 TMEM165 Zornitza Stark Mode of inheritance for gene: TMEM165 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.358 TMEM165 Zornitza Stark reviewed gene: TMEM165: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683087, 28323990, 27401145, 27008884, 26238249, 25609749; Phenotypes: Congenital disorder of glycosylation, type IIk, MIM# 614727, TMEM165-CDG, MONDO:0013870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.358 SLC35D1 Zornitza Stark Phenotypes for gene: SLC35D1 were changed from Schneckenbecken dysplasia 269250; O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) to Schneckenbecken dysplasia 269250, MONDO:0010013; O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)
Congenital Disorders of Glycosylation v0.357 SLC35D1 Zornitza Stark edited their review of gene: SLC35D1: Changed phenotypes: Schneckenbecken dysplasia 269250, MONDO:0010013, O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)
Congenital Disorders of Glycosylation v0.357 SLC35D1 Zornitza Stark Marked gene: SLC35D1 as ready
Congenital Disorders of Glycosylation v0.357 SLC35D1 Zornitza Stark Gene: slc35d1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.357 SLC35D1 Zornitza Stark Phenotypes for gene: SLC35D1 were changed from to Schneckenbecken dysplasia 269250; O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)
Congenital Disorders of Glycosylation v0.356 SLC35D1 Zornitza Stark Publications for gene: SLC35D1 were set to
Congenital Disorders of Glycosylation v0.355 SLC35D1 Zornitza Stark Mode of inheritance for gene: SLC35D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.354 SLC35D1 Zornitza Stark reviewed gene: SLC35D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17952091, 19508970, 31423530; Phenotypes: Schneckenbecken dysplasia 269250, O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.354 SLC35C1 Zornitza Stark Marked gene: SLC35C1 as ready
Congenital Disorders of Glycosylation v0.354 SLC35C1 Zornitza Stark Gene: slc35c1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.354 SLC35C1 Zornitza Stark Phenotypes for gene: SLC35C1 were changed from to Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953
Congenital Disorders of Glycosylation v0.353 SLC35C1 Zornitza Stark Publications for gene: SLC35C1 were set to
Congenital Disorders of Glycosylation v0.352 SLC35C1 Zornitza Stark Mode of inheritance for gene: SLC35C1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.351 SLC35C1 Zornitza Stark reviewed gene: SLC35C1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11326279, 12116250, 33098347, 32313197, 24403049; Phenotypes: Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.351 SEC23B Zornitza Stark Marked gene: SEC23B as ready
Congenital Disorders of Glycosylation v0.351 SEC23B Zornitza Stark Gene: sec23b has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.351 SEC23B Zornitza Stark Phenotypes for gene: SEC23B were changed from to Dyserythropoietic anemia, congenital, type II 224100; COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)
Congenital Disorders of Glycosylation v0.350 SEC23B Zornitza Stark Publications for gene: SEC23B were set to
Congenital Disorders of Glycosylation v0.349 SEC23B Zornitza Stark Mode of inheritance for gene: SEC23B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.348 SEC23B Zornitza Stark reviewed gene: SEC23B: Rating: GREEN; Mode of pathogenicity: None; Publications: 19561605, 19621418; Phenotypes: Dyserythropoietic anemia, congenital, type II 224100, COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies); Mode of inheritance: None
Congenital Disorders of Glycosylation v0.348 GNE Zornitza Stark Marked gene: GNE as ready
Congenital Disorders of Glycosylation v0.348 GNE Zornitza Stark Gene: gne has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.348 GNE Zornitza Stark Phenotypes for gene: GNE were changed from to Nonaka myopathy 605820; Sialuria MIM#269921; ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Congenital Disorders of Glycosylation v0.347 GNE Zornitza Stark Publications for gene: GNE were set to
Congenital Disorders of Glycosylation v0.347 GNE Zornitza Stark Mode of inheritance for gene: GNE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.346 GNE Zornitza Stark reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: None; Publications: 12177386, 12473753, 32053088, 29923088, 10356312, 11326336, 11486897, 27142465; Phenotypes: Nonaka myopathy 605820, Sialuria MIM#269921, ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.346 GALNT3 Zornitza Stark Marked gene: GALNT3 as ready
Congenital Disorders of Glycosylation v0.346 GALNT3 Zornitza Stark Gene: galnt3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.346 GALNT3 Zornitza Stark Phenotypes for gene: GALNT3 were changed from to Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900
Congenital Disorders of Glycosylation v0.345 GALNT3 Zornitza Stark Publications for gene: GALNT3 were set to
Congenital Disorders of Glycosylation v0.344 GALNT3 Zornitza Stark Mode of inheritance for gene: GALNT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.343 GALNT3 Zornitza Stark reviewed gene: GALNT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15133511, 20358599, 32125652; Phenotypes: Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.343 FKRP Zornitza Stark Marked gene: FKRP as ready
Congenital Disorders of Glycosylation v0.343 FKRP Zornitza Stark Gene: fkrp has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.343 FKRP Zornitza Stark Phenotypes for gene: FKRP were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155
Congenital Disorders of Glycosylation v0.342 FKRP Zornitza Stark Mode of inheritance for gene: FKRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.341 FKRP Zornitza Stark reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153, Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.341 FKTN Zornitza Stark Marked gene: FKTN as ready
Congenital Disorders of Glycosylation v0.341 FKTN Zornitza Stark Gene: fktn has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.341 FKTN Zornitza Stark Phenotypes for gene: FKTN were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588
Congenital Disorders of Glycosylation v0.340 FKTN Zornitza Stark Mode of inheritance for gene: FKTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.339 FKTN Zornitza Stark reviewed gene: FKTN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800, Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.339 EXT2 Zornitza Stark Marked gene: EXT2 as ready
Congenital Disorders of Glycosylation v0.339 EXT2 Zornitza Stark Gene: ext2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.339 EXT2 Zornitza Stark Phenotypes for gene: EXT2 were changed from to Seizures, scoliosis, and macrocephaly syndrome 616682; Exostoses, multiple, type 2 133701; Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
Congenital Disorders of Glycosylation v0.338 EXT2 Zornitza Stark Publications for gene: EXT2 were set to
Congenital Disorders of Glycosylation v0.337 EXT2 Zornitza Stark Mode of inheritance for gene: EXT2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.336 EXT2 Zornitza Stark reviewed gene: EXT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30288735, 30075207, 26246518; Phenotypes: Seizures, scoliosis, and macrocephaly syndrome 616682, Exostoses, multiple, type 2 133701, Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.336 EXT1 Zornitza Stark Marked gene: EXT1 as ready
Congenital Disorders of Glycosylation v0.336 EXT1 Zornitza Stark Gene: ext1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.336 EXT1 Zornitza Stark Phenotypes for gene: EXT1 were changed from to Exostoses, multiple, type 1 133700; Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
Congenital Disorders of Glycosylation v0.335 EXT1 Zornitza Stark Publications for gene: EXT1 were set to
Congenital Disorders of Glycosylation v0.334 EXT1 Zornitza Stark Mode of inheritance for gene: EXT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Disorders of Glycosylation v0.333 EXT1 Zornitza Stark reviewed gene: EXT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7550340, 9521425; Phenotypes: Exostoses, multiple, type 1 133700, Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Disorders of Glycosylation v0.333 CHSY1 Zornitza Stark Marked gene: CHSY1 as ready
Congenital Disorders of Glycosylation v0.333 CHSY1 Zornitza Stark Gene: chsy1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.333 CHSY1 Zornitza Stark Phenotypes for gene: CHSY1 were changed from to Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Congenital Disorders of Glycosylation v0.332 CHSY1 Zornitza Stark Publications for gene: CHSY1 were set to
Congenital Disorders of Glycosylation v0.331 CHSY1 Zornitza Stark Mode of inheritance for gene: CHSY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.330 CHSY1 Zornitza Stark reviewed gene: CHSY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21129728, 21129727, 24269551; Phenotypes: Temtamy preaxial brachydactyly syndrome, MIM# 605282, CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.330 ST3GAL5 Zornitza Stark Marked gene: ST3GAL5 as ready
Congenital Disorders of Glycosylation v0.330 ST3GAL5 Zornitza Stark Gene: st3gal5 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.330 ST3GAL5 Zornitza Stark Tag founder tag was added to gene: ST3GAL5.
Congenital Disorders of Glycosylation v0.330 ST3GAL5 Zornitza Stark Phenotypes for gene: ST3GAL5 were changed from to Salt and pepper developmental regression syndrome 609056; GM3 synthase deficiency, MONDO:0018274; Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Congenital Disorders of Glycosylation v0.329 ST3GAL5 Zornitza Stark Publications for gene: ST3GAL5 were set to
Congenital Disorders of Glycosylation v0.328 ST3GAL5 Zornitza Stark Mode of inheritance for gene: ST3GAL5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.327 ST3GAL5 Zornitza Stark reviewed gene: ST3GAL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23436467, 22990144, 15502825, 27232954, 30691927, 30688114, 30576498; Phenotypes: Salt and pepper developmental regression syndrome 609056, GM3 synthase deficiency, MONDO:0018274, Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.327 RFT1 Zornitza Stark Marked gene: RFT1 as ready
Congenital Disorders of Glycosylation v0.327 RFT1 Zornitza Stark Gene: rft1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.327 RFT1 Zornitza Stark Phenotypes for gene: RFT1 were changed from to Congenital disorder of glycosylation, type In, MIM# 612015; RFT1-CDG, MONDO:0012783
Congenital Disorders of Glycosylation v0.326 RFT1 Zornitza Stark Publications for gene: RFT1 were set to
Congenital Disorders of Glycosylation v0.325 RFT1 Zornitza Stark Mode of inheritance for gene: RFT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.324 RFT1 Zornitza Stark edited their review of gene: RFT1: Changed phenotypes: Congenital disorder of glycosylation, type In, MIM# 612015, RFT1-CDG, MONDO:0012783
Congenital Disorders of Glycosylation v0.324 RFT1 Zornitza Stark reviewed gene: RFT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18313027, 19701946, 19856127, 23111317, 30071302, 29923091, 27927990, 26892341; Phenotypes: Congenital disorder of glycosylation, type In, MIM# 612015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.324 POMT2 Zornitza Stark Marked gene: POMT2 as ready
Congenital Disorders of Glycosylation v0.324 POMT2 Zornitza Stark Gene: pomt2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.324 POMT2 Zornitza Stark Phenotypes for gene: POMT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158
Congenital Disorders of Glycosylation v0.323 POMT2 Zornitza Stark Mode of inheritance for gene: POMT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.322 POMT2 Zornitza Stark reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.322 POMT1 Zornitza Stark Marked gene: POMT1 as ready
Congenital Disorders of Glycosylation v0.322 POMT1 Zornitza Stark Gene: pomt1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.322 POMT1 Zornitza Stark Phenotypes for gene: POMT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308
Congenital Disorders of Glycosylation v0.321 POMT1 Zornitza Stark Mode of inheritance for gene: POMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.320 POMT1 Zornitza Stark reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.320 CHST6 Zornitza Stark Marked gene: CHST6 as ready
Congenital Disorders of Glycosylation v0.320 CHST6 Zornitza Stark Gene: chst6 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.320 CHST6 Zornitza Stark Phenotypes for gene: CHST6 were changed from to Macular corneal dystrophy, MIM# 217800, MONDO:0009020
Congenital Disorders of Glycosylation v0.319 CHST6 Zornitza Stark Publications for gene: CHST6 were set to
Congenital Disorders of Glycosylation v0.318 CHST6 Zornitza Stark Mode of inheritance for gene: CHST6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.317 CHST6 Zornitza Stark reviewed gene: CHST6: Rating: GREEN; Mode of pathogenicity: None; Publications: 11818380, 16207214, 26604660; Phenotypes: Macular corneal dystrophy, MIM# 217800, MONDO:0009020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.317 GMPPB Zornitza Stark Marked gene: GMPPB as ready
Congenital Disorders of Glycosylation v0.317 GMPPB Zornitza Stark Gene: gmppb has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.317 GMPPB Zornitza Stark Phenotypes for gene: GMPPB were changed from to 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
Congenital Disorders of Glycosylation v0.316 GMPPB Zornitza Stark Mode of inheritance for gene: GMPPB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.315 GMPPB Zornitza Stark reviewed gene: GMPPB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 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; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.314 MGAT2 Zornitza Stark Publications for gene: MGAT2 were set to 8808595; 11228641; 22105986
Congenital Disorders of Glycosylation v0.313 MGAT2 Zornitza Stark edited their review of gene: MGAT2: Changed publications: 8808595, 11228641, 22105986, 33044030, 31420886
Congenital Disorders of Glycosylation v0.313 MGAT2 Zornitza Stark changed review comment from: Bi-allelic variants in this gene cause a disorder characterised by intellectual disability, seizures, dysmorphic features, growth retardation, skeletal anomalies.; to: Bi-allelic variants in this gene cause a disorder characterised by intellectual disability, seizures, dysmorphic features, growth retardation, skeletal anomalies. One individual reported with immune dysfunction, and one with hydrops.
Congenital Disorders of Glycosylation v0.313 MGAT2 Zornitza Stark edited their review of gene: MGAT2: Changed publications: 8808595, 11228641, 22105986, 33044030
Congenital Disorders of Glycosylation v0.313 MGAT2 Zornitza Stark Marked gene: MGAT2 as ready
Congenital Disorders of Glycosylation v0.313 MGAT2 Zornitza Stark Gene: mgat2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.313 MGAT2 Zornitza Stark Phenotypes for gene: MGAT2 were changed from to Congenital disorder of glycosylation, type IIa, MIM# 212066; MGAT2-CDG, MONDO:0008908
Congenital Disorders of Glycosylation v0.312 MGAT2 Zornitza Stark Publications for gene: MGAT2 were set to
Congenital Disorders of Glycosylation v0.311 MGAT2 Zornitza Stark Mode of inheritance for gene: MGAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.310 MGAT2 Zornitza Stark reviewed gene: MGAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8808595, 11228641, 22105986; Phenotypes: Congenital disorder of glycosylation, type IIa, MIM# 212066, MGAT2-CDG, MONDO:0008908; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.310 MPI Zornitza Stark edited their review of gene: MPI: Changed phenotypes: Congenital disorder of glycosylation, type Ib, MIM# 602579, MPI-CDG MONDO:0011257
Congenital Disorders of Glycosylation v0.310 MPI Zornitza Stark Marked gene: MPI as ready
Congenital Disorders of Glycosylation v0.310 MPI Zornitza Stark Gene: mpi has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.310 MPI Zornitza Stark Phenotypes for gene: MPI were changed from to Congenital disorder of glycosylation, type Ib, MIM# 602579; MPI-CDG MONDO:0011257
Congenital Disorders of Glycosylation v0.309 MPI Zornitza Stark Publications for gene: MPI were set to
Congenital Disorders of Glycosylation v0.308 MPI Zornitza Stark Mode of inheritance for gene: MPI was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.308 MPI Zornitza Stark Mode of inheritance for gene: MPI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.307 MPI Zornitza Stark reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: None; Publications: 12414827, 9585601, 10980531, 33098580, 33204592, 32905087, 32266963, 30242110; Phenotypes: Congenital disorder of glycosylation, type Ib, MIM# 602579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.307 LARGE1 Zornitza Stark Marked gene: LARGE1 as ready
Congenital Disorders of Glycosylation v0.307 LARGE1 Zornitza Stark Gene: large1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.307 LARGE1 Zornitza Stark Phenotypes for gene: LARGE1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840
Congenital Disorders of Glycosylation v0.306 LARGE1 Zornitza Stark Mode of inheritance for gene: LARGE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.305 LARGE1 Zornitza Stark reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.305 ISPD Zornitza Stark Marked gene: ISPD as ready
Congenital Disorders of Glycosylation v0.305 ISPD Zornitza Stark Gene: ispd has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.305 ISPD Zornitza Stark Phenotypes for gene: ISPD were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052
Congenital Disorders of Glycosylation v0.304 ISPD Zornitza Stark Mode of inheritance for gene: ISPD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.303 ISPD Zornitza Stark reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.303 POMGNT2 Zornitza Stark Marked gene: POMGNT2 as ready
Congenital Disorders of Glycosylation v0.303 POMGNT2 Zornitza Stark Gene: pomgnt2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.303 POMGNT2 Zornitza Stark Phenotypes for gene: POMGNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 618135
Congenital Disorders of Glycosylation v0.302 POMGNT2 Zornitza Stark Mode of inheritance for gene: POMGNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.301 POMGNT2 Zornitza Stark reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830, Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 618135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.301 POMGNT1 Zornitza Stark Marked gene: POMGNT1 as ready
Congenital Disorders of Glycosylation v0.301 POMGNT1 Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.301 POMGNT1 Zornitza Stark Phenotypes for gene: POMGNT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3, 613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 613157
Congenital Disorders of Glycosylation v0.300 POMGNT1 Zornitza Stark Mode of inheritance for gene: POMGNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.299 POMGNT1 Zornitza Stark reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, 253280, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3, 613151, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 613157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.299 PGM3 Zornitza Stark Phenotypes for gene: PGM3 were changed from Immunodeficiency 23, MIM# 615816 to Immunodeficiency 23, MIM# 615816; PGM3-CDG, MONDO:0014353
Congenital Disorders of Glycosylation v0.298 PGM3 Zornitza Stark edited their review of gene: PGM3: Changed phenotypes: Immunodeficiency 23, MIM# 615816, PGM3-CDG, MONDO:0014353
Congenital Disorders of Glycosylation v0.298 PGM3 Zornitza Stark Marked gene: PGM3 as ready
Congenital Disorders of Glycosylation v0.298 PGM3 Zornitza Stark Gene: pgm3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.298 PGM3 Zornitza Stark Phenotypes for gene: PGM3 were changed from to Immunodeficiency 23, MIM# 615816
Congenital Disorders of Glycosylation v0.297 PGM3 Zornitza Stark Publications for gene: PGM3 were set to
Congenital Disorders of Glycosylation v0.296 PGM3 Zornitza Stark Mode of inheritance for gene: PGM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.295 PGM3 Zornitza Stark reviewed gene: PGM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30578875, 31231132, 33098103, 30157810, 28704707; Phenotypes: Immunodeficiency 23, MIM# 615816; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.295 PGAP3 Zornitza Stark Marked gene: PGAP3 as ready
Congenital Disorders of Glycosylation v0.295 PGAP3 Zornitza Stark Gene: pgap3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.295 PGAP3 Zornitza Stark Phenotypes for gene: PGAP3 were changed from to Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318
Congenital Disorders of Glycosylation v0.294 PGAP3 Zornitza Stark Publications for gene: PGAP3 were set to
Congenital Disorders of Glycosylation v0.293 PGAP3 Zornitza Stark Mode of inheritance for gene: PGAP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.292 PGAP3 Zornitza Stark edited their review of gene: PGAP3: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.292 PGAP3 Zornitza Stark edited their review of gene: PGAP3: Changed phenotypes: Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318
Congenital Disorders of Glycosylation v0.292 PGAP3 Zornitza Stark edited their review of gene: PGAP3: Changed rating: GREEN
Congenital Disorders of Glycosylation v0.292 PGAP3 Zornitza Stark reviewed gene: PGAP3: Rating: ; Mode of pathogenicity: None; Publications: 24439110, 29620724, 30345601, 30217754; Phenotypes: Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716; Mode of inheritance: None
Congenital Disorders of Glycosylation v0.292 PGAP2 Zornitza Stark Phenotypes for gene: PGAP2 were changed from Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207 to Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628
Congenital Disorders of Glycosylation v0.291 PGAP2 Zornitza Stark edited their review of gene: PGAP2: Changed phenotypes: Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628
Congenital Disorders of Glycosylation v0.291 PGAP2 Zornitza Stark Marked gene: PGAP2 as ready
Congenital Disorders of Glycosylation v0.291 PGAP2 Zornitza Stark Gene: pgap2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.291 PGAP2 Zornitza Stark Phenotypes for gene: PGAP2 were changed from to Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207
Congenital Disorders of Glycosylation v0.290 PGAP2 Zornitza Stark Publications for gene: PGAP2 were set to
Congenital Disorders of Glycosylation v0.289 PGAP2 Zornitza Stark Mode of inheritance for gene: PGAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.288 PGAP2 Zornitza Stark reviewed gene: PGAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561846, 23561847, 31805394, 29119105, 27871432; Phenotypes: Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.288 PIGV Zornitza Stark edited their review of gene: PIGV: Changed phenotypes: Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398
Congenital Disorders of Glycosylation v0.288 PIGV Zornitza Stark Marked gene: PIGV as ready
Congenital Disorders of Glycosylation v0.288 PIGV Zornitza Stark Gene: pigv has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.288 PIGV Zornitza Stark Phenotypes for gene: PIGV were changed from Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300 to Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398
Congenital Disorders of Glycosylation v0.287 PIGV Zornitza Stark Phenotypes for gene: PIGV were changed from to Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300
Congenital Disorders of Glycosylation v0.286 PIGV Zornitza Stark Publications for gene: PIGV were set to
Congenital Disorders of Glycosylation v0.285 PIGV Zornitza Stark Mode of inheritance for gene: PIGV was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.284 PIGV Zornitza Stark reviewed gene: PIGV: Rating: GREEN; Mode of pathogenicity: None; Publications: 20802478, 22315194, 28817240, 24129430; Phenotypes: Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.284 PIGT Zornitza Stark Marked gene: PIGT as ready
Congenital Disorders of Glycosylation v0.284 PIGT Zornitza Stark Gene: pigt has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.284 PIGT Zornitza Stark Phenotypes for gene: PIGT were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398 to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165
Congenital Disorders of Glycosylation v0.283 PIGO Zornitza Stark Phenotypes for gene: PIGO were changed from Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749 to Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882
Congenital Disorders of Glycosylation v0.282 PIGO Zornitza Stark edited their review of gene: PIGO: Changed phenotypes: Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882
Congenital Disorders of Glycosylation v0.282 PIGO Zornitza Stark Marked gene: PIGO as ready
Congenital Disorders of Glycosylation v0.282 PIGO Zornitza Stark Gene: pigo has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.282 PIGO Zornitza Stark Phenotypes for gene: PIGO were changed from to Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749
Congenital Disorders of Glycosylation v0.281 PIGO Zornitza Stark Publications for gene: PIGO were set to
Congenital Disorders of Glycosylation v0.280 PIGO Zornitza Stark Mode of inheritance for gene: PIGO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.279 PIGO Zornitza Stark reviewed gene: PIGO: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683086, 31698102, 28900819, 28545593, 28337824; Phenotypes: Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.279 PIGN Zornitza Stark Marked gene: PIGN as ready
Congenital Disorders of Glycosylation v0.279 PIGN Zornitza Stark Gene: pign has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.279 PIGN Zornitza Stark Phenotypes for gene: PIGN were changed from to Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563
Congenital Disorders of Glycosylation v0.278 PIGN Zornitza Stark Publications for gene: PIGN were set to
Congenital Disorders of Glycosylation v0.277 PIGN Zornitza Stark Mode of inheritance for gene: PIGN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.276 PIGN Zornitza Stark Tag SV/CNV tag was added to gene: PIGN.
Tag founder tag was added to gene: PIGN.
Congenital Disorders of Glycosylation v0.276 PIGN Zornitza Stark reviewed gene: PIGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21493957, 24253414, 26364997, 26394714, 33193741, 32585529, 29330547; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.276 PIGA Zornitza Stark Marked gene: PIGA as ready
Congenital Disorders of Glycosylation v0.276 PIGA Zornitza Stark Gene: piga has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.276 PIGA Zornitza Stark Phenotypes for gene: PIGA were changed from to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466
Congenital Disorders of Glycosylation v0.275 PIGA Zornitza Stark Publications for gene: PIGA were set to
Congenital Disorders of Glycosylation v0.274 PIGA Zornitza Stark Mode of inheritance for gene: PIGA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital Disorders of Glycosylation v0.273 PIGA Zornitza Stark reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305531, 24357517, 24706016, 26545172, 33333793, 32694024; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital Disorders of Glycosylation v0.273 PIGL Zornitza Stark edited their review of gene: PIGL: Changed phenotypes: CHIME syndrome, MIM# 280000, MONDO:0010221
Congenital Disorders of Glycosylation v0.273 PIGL Zornitza Stark Marked gene: PIGL as ready
Congenital Disorders of Glycosylation v0.273 PIGL Zornitza Stark Gene: pigl has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.273 PIGL Zornitza Stark Tag SV/CNV tag was added to gene: PIGL.
Tag founder tag was added to gene: PIGL.
Congenital Disorders of Glycosylation v0.273 PIGL Zornitza Stark Phenotypes for gene: PIGL were changed from to CHIME syndrome, MIM# 280000, MONDO:0010221
Congenital Disorders of Glycosylation v0.272 PIGL Zornitza Stark Publications for gene: PIGL were set to
Congenital Disorders of Glycosylation v0.271 PIGL Zornitza Stark Mode of inheritance for gene: PIGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.270 PIGL Zornitza Stark reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444671, 31535386, 30023290, 29473937, 28371479, 25706356; Phenotypes: CHIME syndrome, MIM# 280000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.270 B3GALT6 Zornitza Stark Marked gene: B3GALT6 as ready
Congenital Disorders of Glycosylation v0.270 B3GALT6 Zornitza Stark Gene: b3galt6 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.270 B3GALT6 Zornitza Stark Phenotypes for gene: B3GALT6 were changed from to Al-Gazali syndrome, MIM# 609465; Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM# 615349, MONDO:0014139; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075
Congenital Disorders of Glycosylation v0.269 B3GALT6 Zornitza Stark Publications for gene: B3GALT6 were set to
Congenital Disorders of Glycosylation v0.268 B3GALT6 Zornitza Stark Mode of inheritance for gene: B3GALT6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.267 B3GALT6 Zornitza Stark changed review comment from: B3GALNT6 forms a galactose (Gal)-beta-1,3-Gal linkage via the transfer of Gal from UDP-Gal to a terminal beta-linked Gal residue and functions in the synthesis of heparan sulfate and chondroitin sulfate.

Variants in B3GALT6 have been associated with type 2 spondylodysplastic Ehlers-Danlos syndrome (EDSSPD2; MIM# 615349), type 1 spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL1; MIM#271640), and Al-Gazali syndrome MIM#609465, all of which have overlapping features.; to: B3GALNT6 forms a galactose (Gal)-beta-1,3-Gal linkage via the transfer of Gal from UDP-Gal to a terminal beta-linked Gal residue and functions in the synthesis of heparan sulfate and chondroitin sulfate.

Variants in B3GALT6 have been associated with type 2 spondylodysplastic Ehlers-Danlos syndrome (EDSSPD2; MIM# 615349), type 1 spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL1; MIM#271640), and Al-Gazali syndrome MIM#609465, all of which have overlapping features. Multiple families reported.
Congenital Disorders of Glycosylation v0.267 B3GALT6 Zornitza Stark reviewed gene: B3GALT6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25149931, 29443383, 23664117, 29931299, 23664117, 23664118, 31614862; Phenotypes: Al-Gazali syndrome, MIM# 609465, Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM# 615349, MONDO:0014139, Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.267 B3GALNT2 Zornitza Stark edited their review of gene: B3GALNT2: Changed phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181, MONDO:0014071
Congenital Disorders of Glycosylation v0.267 B3GALNT2 Zornitza Stark Marked gene: B3GALNT2 as ready
Congenital Disorders of Glycosylation v0.267 B3GALNT2 Zornitza Stark Gene: b3galnt2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.267 B3GALNT2 Zornitza Stark Phenotypes for gene: B3GALNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181; MONDO:0014071
Congenital Disorders of Glycosylation v0.266 B3GALNT2 Zornitza Stark Publications for gene: B3GALNT2 were set to
Congenital Disorders of Glycosylation v0.265 B3GALNT2 Zornitza Stark Mode of inheritance for gene: B3GALNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.264 B3GALNT2 Zornitza Stark reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23453667, 33290285, 29791932, 29273094, 28688748, 28303321; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.264 MPDU1 Zornitza Stark Marked gene: MPDU1 as ready
Congenital Disorders of Glycosylation v0.264 MPDU1 Zornitza Stark Gene: mpdu1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.264 MPDU1 Zornitza Stark Phenotypes for gene: MPDU1 were changed from to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211
Congenital Disorders of Glycosylation v0.263 MPDU1 Zornitza Stark Publications for gene: MPDU1 were set to
Congenital Disorders of Glycosylation v0.262 MPDU1 Zornitza Stark Mode of inheritance for gene: MPDU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.261 MPDU1 Zornitza Stark reviewed gene: MPDU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11733564, 11733556, 31741824, 29721919; Phenotypes: Congenital disorder of glycosylation, type If, MIM# 609180, MPDU1-CDG, MONDO:0012211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.261 DPAGT1 Zornitza Stark Marked gene: DPAGT1 as ready
Congenital Disorders of Glycosylation v0.261 DPAGT1 Zornitza Stark Gene: dpagt1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.261 DPAGT1 Zornitza Stark Phenotypes for gene: DPAGT1 were changed from to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964
Congenital Disorders of Glycosylation v0.260 DPAGT1 Zornitza Stark Publications for gene: DPAGT1 were set to
Congenital Disorders of Glycosylation v0.259 DPAGT1 Zornitza Stark changed review comment from: Type I CDG. More than 20 unrelated families reported. Most affected individuals have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties.; to: Type I CDG. More than 20 unrelated families reported. Most affected individuals have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties.

Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM 614750 is a milder allelic disorder
Congenital Disorders of Glycosylation v0.259 DPAGT1 Zornitza Stark Mode of inheritance for gene: DPAGT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.258 DPAGT1 Zornitza Stark reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872255, 22492991, 22304930, 31153949, 30653653, 30117111; Phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DPAGT1-CDG MONDO:0011964; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.258 DOLK Zornitza Stark Marked gene: DOLK as ready
Congenital Disorders of Glycosylation v0.258 DOLK Zornitza Stark Gene: dolk has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.258 DOLK Zornitza Stark Phenotypes for gene: DOLK were changed from to DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768
Congenital Disorders of Glycosylation v0.257 DOLK Zornitza Stark Publications for gene: DOLK were set to
Congenital Disorders of Glycosylation v0.256 DOLK Zornitza Stark edited their review of gene: DOLK: Changed phenotypes: DK1-CDG, MONDO:0012556, Congenital disorder of glycosylation, type Im, MIM# 610768
Congenital Disorders of Glycosylation v0.256 DOLK Zornitza Stark edited their review of gene: DOLK: Changed phenotypes: DK1-CDG, MONDO:0012556
Congenital Disorders of Glycosylation v0.256 DOLK Zornitza Stark Mode of inheritance for gene: DOLK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.255 DOLK Zornitza Stark reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273964, 22242004, 23890587, 30653653, 28816422, 24144945; Phenotypes: Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.255 COG7 Zornitza Stark Marked gene: COG7 as ready
Congenital Disorders of Glycosylation v0.255 COG7 Zornitza Stark Gene: cog7 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.255 COG7 Zornitza Stark Phenotypes for gene: COG7 were changed from to Congenital disorder of glycosylation, type IIe , MIM#608779
Congenital Disorders of Glycosylation v0.254 COG7 Zornitza Stark Publications for gene: COG7 were set to
Congenital Disorders of Glycosylation v0.253 COG7 Zornitza Stark Mode of inheritance for gene: COG7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.252 COG7 Zornitza Stark reviewed gene: COG7: Rating: GREEN; Mode of pathogenicity: None; Publications: 15107842, 17356545, 28883096; Phenotypes: Congenital disorder of glycosylation, type IIe , MIM#608779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.252 COG1 Zornitza Stark Marked gene: COG1 as ready
Congenital Disorders of Glycosylation v0.252 COG1 Zornitza Stark Gene: cog1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.252 COG1 Zornitza Stark Phenotypes for gene: COG1 were changed from to Congenital disorder of glycosylation, type IIg, MIM# 611209
Congenital Disorders of Glycosylation v0.251 COG1 Zornitza Stark Publications for gene: COG1 were set to
Congenital Disorders of Glycosylation v0.250 COG1 Zornitza Stark Mode of inheritance for gene: COG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.249 COG1 Zornitza Stark reviewed gene: COG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16537452, 19008299, 17904886, 11980916; Phenotypes: Congenital disorder of glycosylation, type IIg, MIM# 611209; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.249 CHST3 Zornitza Stark Marked gene: CHST3 as ready
Congenital Disorders of Glycosylation v0.249 CHST3 Zornitza Stark Gene: chst3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.249 CHST3 Zornitza Stark Phenotypes for gene: CHST3 were changed from to Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM# 143095
Congenital Disorders of Glycosylation v0.248 CHST3 Zornitza Stark Publications for gene: CHST3 were set to
Congenital Disorders of Glycosylation v0.247 CHST3 Zornitza Stark Mode of inheritance for gene: CHST3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.246 CHST3 Zornitza Stark reviewed gene: CHST3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18513679; Phenotypes: Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM# 143095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.246 CHST14 Zornitza Stark Marked gene: CHST14 as ready
Congenital Disorders of Glycosylation v0.246 CHST14 Zornitza Stark Gene: chst14 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.246 CHST14 Zornitza Stark Phenotypes for gene: CHST14 were changed from to Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776
Congenital Disorders of Glycosylation v0.245 CHST14 Zornitza Stark Publications for gene: CHST14 were set to
Congenital Disorders of Glycosylation v0.244 CHST14 Zornitza Stark Mode of inheritance for gene: CHST14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.243 CHST14 Zornitza Stark reviewed gene: CHST14: Rating: GREEN; Mode of pathogenicity: None; Publications: 26373698; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.243 COG6 Zornitza Stark Marked gene: COG6 as ready
Congenital Disorders of Glycosylation v0.243 COG6 Zornitza Stark Gene: cog6 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.243 COG6 Zornitza Stark Phenotypes for gene: COG6 were changed from to Congenital disorder of glycosylation, type IIl, MIM# 614576
Congenital Disorders of Glycosylation v0.242 COG6 Zornitza Stark Publications for gene: COG6 were set to
Congenital Disorders of Glycosylation v0.241 COG6 Zornitza Stark Mode of inheritance for gene: COG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.240 COG6 Zornitza Stark reviewed gene: COG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20605848, 23430903, 26260076, 32905044, 32683677, 31420886; Phenotypes: Congenital disorder of glycosylation, type IIl, MIM# 614576; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.240 COG5 Zornitza Stark Marked gene: COG5 as ready
Congenital Disorders of Glycosylation v0.240 COG5 Zornitza Stark Gene: cog5 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.240 COG5 Zornitza Stark Phenotypes for gene: COG5 were changed from to Congenital disorder of glycosylation, type IIi, MIM# 613612
Congenital Disorders of Glycosylation v0.239 COG5 Zornitza Stark Publications for gene: COG5 were set to
Congenital Disorders of Glycosylation v0.238 COG5 Zornitza Stark Mode of inheritance for gene: COG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.237 COG5 Zornitza Stark reviewed gene: COG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23228021, 31572517, 32174980; Phenotypes: Congenital disorder of glycosylation, type IIi, MIM# 613612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.237 DPM3 Zornitza Stark Marked gene: DPM3 as ready
Congenital Disorders of Glycosylation v0.237 DPM3 Zornitza Stark Gene: dpm3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.237 DPM3 Zornitza Stark Phenotypes for gene: DPM3 were changed from to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992
Congenital Disorders of Glycosylation v0.236 DPM3 Zornitza Stark Publications for gene: DPM3 were set to
Congenital Disorders of Glycosylation v0.235 DPM3 Zornitza Stark Mode of inheritance for gene: DPM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.234 DPM3 Zornitza Stark reviewed gene: DPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31266720, 28803818, 19576565, 31266720, 31469168; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937, Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.234 B3GAT3 Zornitza Stark Marked gene: B3GAT3 as ready
Congenital Disorders of Glycosylation v0.234 B3GAT3 Zornitza Stark Gene: b3gat3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.234 B3GAT3 Zornitza Stark Phenotypes for gene: B3GAT3 were changed from to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM# 245600
Congenital Disorders of Glycosylation v0.233 B3GAT3 Zornitza Stark Publications for gene: B3GAT3 were set to
Congenital Disorders of Glycosylation v0.232 B3GAT3 Zornitza Stark Mode of inheritance for gene: B3GAT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.231 B3GAT3 Zornitza Stark reviewed gene: B3GAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26754439, 31988067, 26086840, 25893793, 21763480, 24668659; Phenotypes: Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM# 245600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.231 SLC10A7 Zornitza Stark Marked gene: SLC10A7 as ready
Congenital Disorders of Glycosylation v0.231 SLC10A7 Zornitza Stark Gene: slc10a7 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.231 SLC10A7 Zornitza Stark Classified gene: SLC10A7 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.231 SLC10A7 Zornitza Stark Gene: slc10a7 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.230 SLC10A7 Zornitza Stark gene: SLC10A7 was added
gene: SLC10A7 was added to Congenital Disorders of Glycosylation. Sources: Expert list
Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC10A7 were set to 30082715; 29878199; 31191616
Phenotypes for gene: SLC10A7 were set to Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, MIM# 618363
Review for gene: SLC10A7 was set to GREEN
Added comment: More than 5 unrelated families reported with bi-allelic variants in this gene and skeletal dysplasia with multiple dislocations and amelogenesis imperfecta. Gene product has a putative role in the biosynthesis and trafficking of glycoproteins and glycosaminoglycans (proteoglycans).
Sources: Expert list
Congenital Disorders of Glycosylation v0.229 SLC9A7 Zornitza Stark Marked gene: SLC9A7 as ready
Congenital Disorders of Glycosylation v0.229 SLC9A7 Zornitza Stark Gene: slc9a7 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.229 SLC9A7 Zornitza Stark Classified gene: SLC9A7 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.229 SLC9A7 Zornitza Stark Gene: slc9a7 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.228 SLC9A7 Zornitza Stark gene: SLC9A7 was added
gene: SLC9A7 was added to Congenital Disorders of Glycosylation. Sources: Expert list
Mode of inheritance for gene: SLC9A7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC9A7 were set to 30335141
Phenotypes for gene: SLC9A7 were set to Intellectual developmental disorder, X-linked 108, OMIM #301024
Review for gene: SLC9A7 was set to AMBER
Added comment: 6 males from 2 unrelated families with hemizygous missense mutation in the SLC9A7 gene. The mutation segregated with the disorder in the family. In vitro functional expression studies in CHO cells (AP-1 cells) showed that the mutation caused decreased levels of protein expression and reduced oligosaccharide maturation/glycosylation compared to wildtype, indicating impaired posttranslational processing. Subcellular localization studies indicated that protein trafficking was unaffected by the mutation. However, examination of the trans-Golgi compartment suggested a gain-of-function effect and a perturbation of glycosylation of secretory cargo. Serum transferrin studies in 1 patient suggested a glycosylation defect.
Sources: Expert list
Congenital Disorders of Glycosylation v0.227 VMA21 Zornitza Stark Marked gene: VMA21 as ready
Congenital Disorders of Glycosylation v0.227 VMA21 Zornitza Stark Gene: vma21 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.227 VMA21 Zornitza Stark Classified gene: VMA21 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.227 VMA21 Zornitza Stark Gene: vma21 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.226 VMA21 Zornitza Stark gene: VMA21 was added
gene: VMA21 was added to Congenital Disorders of Glycosylation. Sources: Expert list
Mode of inheritance for gene: VMA21 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: VMA21 were set to 27916343; 25809233; 23315026
Phenotypes for gene: VMA21 were set to Myopathy, X-linked, with excessive autophagy (MIM#310440)
Review for gene: VMA21 was set to GREEN
Added comment: More than 15 families reported. Note many of the variants are intronic. Gene product participates in the assembly of the V-ATPase.
Sources: Expert list
Congenital Disorders of Glycosylation v0.225 PIGU Zornitza Stark Marked gene: PIGU as ready
Congenital Disorders of Glycosylation v0.225 PIGU Zornitza Stark Gene: pigu has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.225 PIGU Zornitza Stark Classified gene: PIGU as Green List (high evidence)
Congenital Disorders of Glycosylation v0.225 PIGU Zornitza Stark Gene: pigu has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.224 PIGU Zornitza Stark gene: PIGU was added
gene: PIGU was added to Congenital Disorders of Glycosylation. Sources: Expert list
Mode of inheritance for gene: PIGU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGU were set to 31353022
Phenotypes for gene: PIGU were set to Glycosylphosphatidylinositol biosynthesis defect 21, OMIM #618590
Review for gene: PIGU was set to GREEN
Added comment: 5 patients from 3 unrelated families, with homozygous missense mutations in the PIGU gene. All individuals presented with global DD, severe-to-profound ID, muscular hypotonia, seizures, brain anomalies, scoliosis, and mild facial dysmorphism. Flow cytometric analysis of patient granulocytes showed a characteristic pattern, with reduced cell surface expression of CD16 and CD24. In addition, patient B cells showed increased expression of free GPI anchors determined by a specific antibody, T5. The findings suggested that PIGU mutations reduce the function of the GPI transamidase complex, leading to accumulation of free GPI anchors on the cell surface.
Sources: Expert list
Congenital Disorders of Glycosylation v0.223 PIGP Zornitza Stark edited their review of gene: PIGP: Changed publications: 28334793, 31139695, 32042915
Congenital Disorders of Glycosylation v0.223 PIGP Zornitza Stark Publications for gene: PIGP were set to 31139695; 32042915
Congenital Disorders of Glycosylation v0.222 PIGP Zornitza Stark Marked gene: PIGP as ready
Congenital Disorders of Glycosylation v0.222 PIGP Zornitza Stark Gene: pigp has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.222 PIGP Zornitza Stark Classified gene: PIGP as Green List (high evidence)
Congenital Disorders of Glycosylation v0.222 PIGP Zornitza Stark Gene: pigp has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.221 PIGP Zornitza Stark gene: PIGP was added
gene: PIGP was added to Congenital Disorders of Glycosylation. Sources: Expert list
Mode of inheritance for gene: PIGP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGP were set to 31139695; 32042915
Phenotypes for gene: PIGP were set to Developmental and epileptic encephalopathy 55, MIM# 617599
Review for gene: PIGP was set to GREEN
Added comment: Seven individuals from three unrelated families reported. Severe disorder characterised by early-onset seizures, and intellectual disability.
Sources: Expert list
Congenital Disorders of Glycosylation v0.220 PIGK Zornitza Stark Marked gene: PIGK as ready
Congenital Disorders of Glycosylation v0.220 PIGK Zornitza Stark Gene: pigk has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.220 PIGK Zornitza Stark Classified gene: PIGK as Green List (high evidence)
Congenital Disorders of Glycosylation v0.220 PIGK Zornitza Stark Gene: pigk has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.219 PIGK Zornitza Stark gene: PIGK was added
gene: PIGK was added to Congenital Disorders of Glycosylation. Sources: Expert list
Mode of inheritance for gene: PIGK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGK were set to 32220290
Phenotypes for gene: PIGK were set to Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879
Review for gene: PIGK was set to GREEN
Added comment: 12 individuals from 9 unrelated families reported.
Sources: Expert list
Congenital Disorders of Glycosylation v0.218 PIGH Zornitza Stark Marked gene: PIGH as ready
Congenital Disorders of Glycosylation v0.218 PIGH Zornitza Stark Gene: pigh has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.218 PIGH Zornitza Stark Classified gene: PIGH as Green List (high evidence)
Congenital Disorders of Glycosylation v0.218 PIGH Zornitza Stark Gene: pigh has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.217 PIGH Zornitza Stark gene: PIGH was added
gene: PIGH was added to Congenital Disorders of Glycosylation. Sources: Expert list
Mode of inheritance for gene: PIGH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGH were set to 33156547; 29573052; 29603516
Phenotypes for gene: PIGH were set to Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010
Review for gene: PIGH was set to GREEN
Added comment: Six unrelated families reported, common clinical features include developmental delay/intellectual disability and hypotonia. Variable clinical features include seizures, autism spectrum disorder, apraxia, severe language delay, dysarthria, feeding difficulties, facial dysmorphisms, microcephaly, strabismus, and musculoskeletal anomalies.
Sources: Expert list
Congenital Disorders of Glycosylation v0.216 PIGB Zornitza Stark Marked gene: PIGB as ready
Congenital Disorders of Glycosylation v0.216 PIGB Zornitza Stark Gene: pigb has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.216 PIGB Zornitza Stark Classified gene: PIGB as Green List (high evidence)
Congenital Disorders of Glycosylation v0.216 PIGB Zornitza Stark Gene: pigb has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.215 PIGB Zornitza Stark gene: PIGB was added
gene: PIGB was added to Congenital Disorders of Glycosylation. Sources: Expert list
Mode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGB were set to 31256876
Phenotypes for gene: PIGB were set to Developmental and epileptic encephalopathy 80 618580
Review for gene: PIGB was set to GREEN
Added comment: 10 unrelated families with biallelic mutations in PIGB, with global DD and/or ID, and seizures. Two had polymicrogyria, 4 had a peripheral neuropathy, and 2 had a clinical diagnosis of DOORS syndrome. Patient lymphocytes and fibroblasts showed variably decreased levels of cell surface GPI-anchored proteins, including CD16 and CD59. In vitro functional expression studies performed with some of the mutations in PIGB-null CHO cells showed that the mutant proteins were unable to fully restore expression of GPI-anchored surface proteins, consistent with a loss of function, although the mutations had variable effects.
Sources: Expert list
Congenital Disorders of Glycosylation v0.214 GPAA1 Zornitza Stark Marked gene: GPAA1 as ready
Congenital Disorders of Glycosylation v0.214 GPAA1 Zornitza Stark Gene: gpaa1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.214 GPAA1 Zornitza Stark Classified gene: GPAA1 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.214 GPAA1 Zornitza Stark Gene: gpaa1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.213 GPAA1 Zornitza Stark gene: GPAA1 was added
gene: GPAA1 was added to Congenital Disorders of Glycosylation. Sources: Expert Review
Mode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPAA1 were set to 29100095
Phenotypes for gene: GPAA1 were set to Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810
Review for gene: GPAA1 was set to GREEN
Added comment: At least 5 unrelated families reported with bi-allelic variants in this gene and delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.
Sources: Expert Review
Congenital Disorders of Glycosylation v0.212 OGT Zornitza Stark Marked gene: OGT as ready
Congenital Disorders of Glycosylation v0.212 OGT Zornitza Stark Gene: ogt has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.212 OGT Zornitza Stark Classified gene: OGT as Green List (high evidence)
Congenital Disorders of Glycosylation v0.212 OGT Zornitza Stark Gene: ogt has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.211 OGT Zornitza Stark gene: OGT was added
gene: OGT was added to Congenital Disorders of Glycosylation. Sources: Expert Review
Mode of inheritance for gene: OGT was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OGT were set to 28302723; 28584052; 31296563; 31627256; 29769320; 29606577
Phenotypes for gene: OGT were set to Mental retardation, X-linked 106, MIM# 300997
Review for gene: OGT was set to GREEN
Added comment: OGT encodes O-GlcNAc transferase subunit p110. More than 5 unrelated families reported, presenting with ID, hypotonia, eye abnormalities, hearing impairment, behavioural problems, short stature, dysmorphism. Functional data supports gene-disease association.
Sources: Expert Review
Congenital Disorders of Glycosylation v0.210 EXTL3 Zornitza Stark Marked gene: EXTL3 as ready
Congenital Disorders of Glycosylation v0.210 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.210 EXTL3 Zornitza Stark Classified gene: EXTL3 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.210 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.209 EXTL3 Zornitza Stark gene: EXTL3 was added
gene: EXTL3 was added to Congenital Disorders of Glycosylation. Sources: Expert Review
Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXTL3 were set to 28132690; 28148688; 28331220
Phenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425
Review for gene: EXTL3 was set to GREEN
Added comment: EXTL3 is a glycosyltransferase involved in the synthesis of heparin and heparan sulfate. 8 unrelated families reported with skeletal dysplasia +/- immune deficiency and neurodevelopmental abnormalities.
Sources: Expert Review
Congenital Disorders of Glycosylation v0.208 SSR3 Zornitza Stark Marked gene: SSR3 as ready
Congenital Disorders of Glycosylation v0.208 SSR3 Zornitza Stark Gene: ssr3 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.208 SSR3 Zornitza Stark Classified gene: SSR3 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.208 SSR3 Zornitza Stark Gene: ssr3 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.207 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
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 v0.206 DPM2 Zornitza Stark Publications for gene: DPM2 were set to 23109149
Congenital Disorders of Glycosylation v0.205 DPM2 Zornitza Stark Classified gene: DPM2 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.205 DPM2 Zornitza Stark Gene: dpm2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.204 DPM2 Zornitza Stark changed review comment from: Further family reported.; to: Further unrelated individual reported, main clinical features were truncal hypotonia, hypertonicity, congenital heart defects, intellectual disability, and generalized muscle wasting.
Congenital Disorders of Glycosylation v0.204 DPM2 Zornitza Stark edited their review of gene: DPM2: Added comment: Further family reported.; Changed rating: GREEN; Changed publications: 23109149, 33129689
Congenital Disorders of Glycosylation v0.204 ATP6V0A2 Zornitza Stark Marked gene: ATP6V0A2 as ready
Congenital Disorders of Glycosylation v0.204 ATP6V0A2 Zornitza Stark Gene: atp6v0a2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.204 ATP6V0A2 Zornitza Stark Phenotypes for gene: ATP6V0A2 were changed from to Cutis laxa, autosomal recessive, type IIA, MIM# 219200; Wrinkly skin syndrome, MIM#278250
Congenital Disorders of Glycosylation v0.203 ATP6V0A2 Zornitza Stark Publications for gene: ATP6V0A2 were set to
Congenital Disorders of Glycosylation v0.202 ATP6V0A2 Zornitza Stark Mode of inheritance for gene: ATP6V0A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.201 ATP6V0A2 Zornitza Stark reviewed gene: ATP6V0A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29952037, 22773132; Phenotypes: Cutis laxa, autosomal recessive, type IIA, MIM# 219200, Wrinkly skin syndrome, MIM#278250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.201 ALG9 Zornitza Stark Marked gene: ALG9 as ready
Congenital Disorders of Glycosylation v0.201 ALG9 Zornitza Stark Gene: alg9 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.201 ALG9 Zornitza Stark Phenotypes for gene: ALG9 were changed from to Congenital disorder of glycosylation, type Il, MIM#608776; Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210
Congenital Disorders of Glycosylation v0.200 ALG9 Zornitza Stark Publications for gene: ALG9 were set to
Congenital Disorders of Glycosylation v0.199 ALG9 Zornitza Stark Mode of inheritance for gene: ALG9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.198 ALG9 Zornitza Stark reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28932688, 25966638, 26453364; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776, Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.198 ALG8 Zornitza Stark Marked gene: ALG8 as ready
Congenital Disorders of Glycosylation v0.198 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.198 ALG8 Zornitza Stark Phenotypes for gene: ALG8 were changed from to Congenital disorder of glycosylation, type Ih, MIM# 608104
Congenital Disorders of Glycosylation v0.197 ALG8 Zornitza Stark Publications for gene: ALG8 were set to
Congenital Disorders of Glycosylation v0.196 ALG8 Zornitza Stark Mode of inheritance for gene: ALG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.195 ALG8 Zornitza Stark reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 26066342; Phenotypes: Congenital disorder of glycosylation, type Ih, MIM# 608104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.195 ALG3 Zornitza Stark Marked gene: ALG3 as ready
Congenital Disorders of Glycosylation v0.195 ALG3 Zornitza Stark Gene: alg3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.195 ALG3 Zornitza Stark Phenotypes for gene: ALG3 were changed from to Congenital disorder of glycosylation, type Id, MIM# 601110
Congenital Disorders of Glycosylation v0.194 ALG3 Zornitza Stark Publications for gene: ALG3 were set to
Congenital Disorders of Glycosylation v0.193 ALG3 Zornitza Stark Mode of inheritance for gene: ALG3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.192 ALG3 Zornitza Stark reviewed gene: ALG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31067009; Phenotypes: Congenital disorder of glycosylation, type Id, MIM# 601110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.192 ALG6 Zornitza Stark Marked gene: ALG6 as ready
Congenital Disorders of Glycosylation v0.192 ALG6 Zornitza Stark Gene: alg6 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.192 ALG6 Zornitza Stark Phenotypes for gene: ALG6 were changed from to Congenital disorder of glycosylation, type Ic (MIM#603147)
Congenital Disorders of Glycosylation v0.191 ALG6 Zornitza Stark Publications for gene: ALG6 were set to
Congenital Disorders of Glycosylation v0.190 ALG6 Zornitza Stark reviewed gene: ALG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 27498540; Phenotypes: Congenital disorder of glycosylation, type Ic (MIM#603147); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.190 ALG6 Zornitza Stark Mode of inheritance for gene: ALG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.189 MOGS Zornitza Stark Publications for gene: MOGS were set to 31925597; 30587846
Congenital Disorders of Glycosylation v0.188 MOGS Zornitza Stark edited their review of gene: MOGS: Added comment: Six unrelated families reported.; Changed publications: 31925597, 33058492
Congenital Disorders of Glycosylation v0.188 MOGS Zornitza Stark Publications for gene: MOGS were set to 31925597
Congenital Disorders of Glycosylation v0.187 NGLY1 Zornitza Stark Phenotypes for gene: NGLY1 were changed from Congenital disorder of deglycosylation, MIM# 615273 to Congenital disorder of deglycosylation, MIM# 615273; alacrima, movement disorder, microcephaly, abnormal LFTs
Congenital Disorders of Glycosylation v0.186 NGLY1 Zornitza Stark Publications for gene: NGLY1 were set to 24651605; 27388694; 32259258
Congenital Disorders of Glycosylation v0.185 ALG6 Melanie Marty reviewed gene: ALG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 10914684; Phenotypes: Congenital disorder of glycosylation, type Ic (MIM#603147); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.185 MOGS Sarah Donoghue reviewed gene: MOGS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30587846, PMID: 31925597,; Phenotypes: hypotonia, global developmental delay, feeding problems, seizures, hypogammaglobulinaemia, variable problems with cardiac, dysmorpholology overlapping fingers, short palpebral fissures, micrognathia, can have upsweeping hair at front. MRI may be normal, but can have generalised atrophy. Transferrin isoforms may be normal - look at urine Gl4 (tetrasaccharide) increased in cases; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital Disorders of Glycosylation v0.185 NGLY1 Sarah Donoghue reviewed gene: NGLY1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29550355; Phenotypes: alacrima, movement disorder, microcephaly, abnormal LFT's; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.185 B4GALT7 Zornitza Stark Marked gene: B4GALT7 as ready
Congenital Disorders of Glycosylation v0.185 B4GALT7 Zornitza Stark Gene: b4galt7 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.185 B4GALT7 Zornitza Stark Phenotypes for gene: B4GALT7 were changed from to Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070
Congenital Disorders of Glycosylation v0.184 B4GALT7 Zornitza Stark Publications for gene: B4GALT7 were set to
Congenital Disorders of Glycosylation v0.183 B4GALT7 Zornitza Stark Mode of inheritance for gene: B4GALT7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.182 B4GALT7 Zornitza Stark Tag founder tag was added to gene: B4GALT7.
Congenital Disorders of Glycosylation v0.182 B4GALT7 Zornitza Stark reviewed gene: B4GALT7: Rating: GREEN; Mode of pathogenicity: None; Publications: 23956117, 24755949, 31278392, 31614862, 31862401; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.182 ATP6AP2 Zornitza Stark Marked gene: ATP6AP2 as ready
Congenital Disorders of Glycosylation v0.182 ATP6AP2 Zornitza Stark Gene: atp6ap2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.182 ATP6AP2 Zornitza Stark Classified gene: ATP6AP2 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.182 ATP6AP2 Zornitza Stark Gene: atp6ap2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.181 ATP6AP2 Zornitza Stark gene: ATP6AP2 was added
gene: ATP6AP2 was added to Congenital Disorders of Glycosylation. Sources: Expert list
Mode of inheritance for gene: ATP6AP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6AP2 were set to 29127204; 29388887
Phenotypes for gene: ATP6AP2 were set to Congenital disorder of glycosylation, type IIr, MIM# 301045
Review for gene: ATP6AP2 was set to GREEN
Added comment: Congenital disorder of glycosylation type 2R (CDG2R) is an X-linked recessive disorder characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa. Some individuals may also have mild intellectual impairment and dysmorphic features. Laboratory studies showed defective glycosylation of serum transferrin in a type 2 pattern.

Two unrelated families and functional data support gene-disease association. Note gene has also been associated with two other OMIM phenotypes, 300423 and 300911, comprising ID, parkinsonism and spasticity. Unclear whether all of these represent a spectrum of CDG.
Sources: Expert list
Congenital Disorders of Glycosylation v0.180 COG8 Zornitza Stark Marked gene: COG8 as ready
Congenital Disorders of Glycosylation v0.180 COG8 Zornitza Stark Gene: cog8 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.180 COG8 Zornitza Stark Phenotypes for gene: COG8 were changed from to Congenital disorder of glycosylation, type IIh, MIM# 611182
Congenital Disorders of Glycosylation v0.179 COG8 Zornitza Stark Publications for gene: COG8 were set to
Congenital Disorders of Glycosylation v0.178 COG8 Zornitza Stark Mode of inheritance for gene: COG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.177 COG8 Zornitza Stark reviewed gene: COG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17220172, 28619360, 30690882, 17331980; Phenotypes: Congenital disorder of glycosylation, type IIh, MIM# 611182; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.177 SLC37A4 Zornitza Stark Marked gene: SLC37A4 as ready
Congenital Disorders of Glycosylation v0.177 SLC37A4 Zornitza Stark Gene: slc37a4 has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.177 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 v0.176 SLC35A3 Zornitza Stark Publications for gene: SLC35A3 were set to 28328131; 24031089; 28777481
Congenital Disorders of Glycosylation v0.175 SLC35A3 Zornitza Stark Phenotypes for gene: SLC35A3 were changed from Arthrogryposis, mental retardation, and seizures; OMIM #615553 to Arthrogryposis, mental retardation, and seizures OMIM #615553; Skeletal dysplasia; Congenital disorder of glycosylation
Congenital Disorders of Glycosylation v0.175 SLC35A3 Zornitza Stark Publications for gene: SLC35A3 were set to 28328131; 24031089
Congenital Disorders of Glycosylation v0.174 SLC35A3 Zornitza Stark Classified gene: SLC35A3 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.174 SLC35A3 Zornitza Stark Gene: slc35a3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.173 SLC35A3 Zornitza Stark edited their review of gene: SLC35A3: Added comment: Third unrelated family reported in PMID 28777481 with prenatally diagnosed anomalous vertebrae, including butterfly, and hemivertebrae throughout the spine, as well as cleft palate, micrognathia, patent foramen ovale, patent ductus arteriosus, posterior embryotoxon, short limbs, camptodactyly, talipes valgus, rocker bottom feet, and facial dysmorphism including proptosis, nevus flammeus, and a cupped left ear. Unclear if this is a distinct phenotype (note Holstein cows with variants in this gene have a skeletal phenotype) or part of a spectrum for a CDG. However, abnormal protein glycosylation, consistent with a defective Golgi UDP-GlcNAc transporter demonstrated, so overall, promoted to Green for CDG.; Changed rating: GREEN; Changed publications: 28777481, 28328131, 24031089; Changed phenotypes: Arthrogryposis, mental retardation, and seizures OMIM #615553, Skeletal dysplasia, Congenital disorder of glycosylation; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.173 GFPT1 Zornitza Stark changed review comment from: 15 unrelated families reported with bi-allelic variants and a congenital myasthenic syndrome. Two families with leukoencephalopathy as well as CMS.

The GFPT1 gene encodes an isoform of glutamine:fructose-6-phosphate amidotransferase (GFAT), which catalyzes the transfer of an amino group from glutamine onto fructose-6-phosphate, yielding glucosamine 6-phosphate and glutamate. It is the first and rate-limiting enzyme of the hexosamine biosynthetic pathway. Hexosamine is the obligatory source of essential amino sugars for the synthesis of glycoproteins, glycolipids, and proteoglycans. Muscle samples from several patients showed decreased protein glycosylation.; to: 15 unrelated families reported with bi-allelic variants and a congenital myasthenic syndrome. Two families with leukoencephalopathy as well as CMS.

The GFPT1 gene encodes an isoform of glutamine:fructose-6-phosphate amidotransferase (GFAT), which catalyzes the transfer of an amino group from glutamine onto fructose-6-phosphate, yielding glucosamine 6-phosphate and glutamate. It is the first and rate-limiting enzyme of the hexosamine biosynthetic pathway. Hexosamine is the obligatory source of essential amino sugars for the synthesis of glycoproteins, glycolipids, and proteoglycans. Muscle samples from several patients showed decreased protein glycosylation, suggesting this is a disorder of glycosylation. However, there is also some data put forward in PMID 30635494 that this may be a mitochondrial condition.
Congenital Disorders of Glycosylation v0.173 GFPT1 Zornitza Stark Marked gene: GFPT1 as ready
Congenital Disorders of Glycosylation v0.173 GFPT1 Zornitza Stark Gene: gfpt1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.173 GFPT1 Zornitza Stark Phenotypes for gene: GFPT1 were changed from to Myasthenia, congenital, 12, with tubular aggregates, 610542; Limb-girdle congenital myasthenic syndrome; Leukoencephalopathy
Congenital Disorders of Glycosylation v0.172 GFPT1 Zornitza Stark Publications for gene: GFPT1 were set to
Congenital Disorders of Glycosylation v0.171 GFPT1 Zornitza Stark Mode of inheritance for gene: GFPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.170 GFPT1 Zornitza Stark reviewed gene: GFPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21310273, 30635494; Phenotypes: Myasthenia, congenital, 12, with tubular aggregates, 610542, Limb-girdle congenital myasthenic syndrome, Leukoencephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.170 ALG14 Zornitza Stark Phenotypes for gene: ALG14 were changed from Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031; Disorder of N-glycosylation to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031; Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036; Disorder of N-glycosylation
Congenital Disorders of Glycosylation v0.169 ALG14 Zornitza Stark edited their review of gene: ALG14: Added comment: Five families reported altogether. Although OMIM has assigned 3 disease entities, it is uncertain whether these are distinct, or represent a spectrum of severity for a CDG.; Changed publications: 30221345, 23404334, 28733338; Changed phenotypes: Myasthenic syndrome, congenital, 15, without tubular aggregates 616227, Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031, Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036, Disorder of N-glycosylation
Congenital Disorders of Glycosylation v0.169 PIGT Zornitza Stark Publications for gene: PIGT were set to
Congenital Disorders of Glycosylation v0.168 PIGT Zornitza Stark Phenotypes for gene: PIGT were changed from to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398
Congenital Disorders of Glycosylation v0.167 PIGT Zornitza Stark Mode of inheritance for gene: PIGT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.166 ALG13 Zornitza Stark edited their review of gene: ALG13: Changed mode of inheritance: 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 v0.166 ALG13 Zornitza Stark Publications for gene: ALG13 were set to 22492991; 28887793; 26138355
Congenital Disorders of Glycosylation v0.165 ALG13 Zornitza Stark Classified gene: ALG13 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.165 ALG13 Zornitza Stark Gene: alg13 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.164 ALG13 Zornitza Stark reviewed gene: ALG13: Rating: GREEN; Mode of pathogenicity: None; Publications: 23033978, 23934111, 24781210, 24896178, 25732998, 26138355, 26482601, 28940310, 32238909; Phenotypes: Congenital disorder of glycosylation, type Is (MIM# 300884); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.164 PIGT Sarah Donoghue reviewed gene: PIGT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25943031, PMID: 24906948, PMID: 23636107, PMID: 30813157 PMID: 28728837, PMID: 27916860, PMID: 29868109, PMID: 30976099; Phenotypes: Intellectual disability, Hypotonia, Leukodystrophy, Cortical visual impairment, Strabismus, Hearing Loss, Patent Ductus Arteriosus, Cardiomyopathy, Gastroesophageal Reflux, Nephrocalcinosis, Ureteric dilatation, Slender long bones, Scoliosis, Brachycephaly, Short arms, Pectus excavated, joint hyper mobility, High forehead, bitemporal narrowing, broad nasal root, antevered nose, depressed nasal bridge, long philtrum with a deep groove, cupid bow lips; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital Disorders of Glycosylation v0.164 ALG13 Sarah Donoghue reviewed gene: ALG13: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31444733; Phenotypes: Microcephaly, infantile spasms, developmental regression, hypotonia, epileptic encephalopathy, intellectual disability; Mode of inheritance: None
Congenital Disorders of Glycosylation v0.164 ALG14 Zornitza Stark Phenotypes for gene: ALG14 were changed from Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual disability; Disorder of N-glycosylation to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031; Disorder of N-glycosylation
Congenital Disorders of Glycosylation v0.163 ALG14 Zornitza Stark edited their review of gene: ALG14: Changed phenotypes: Myasthenic syndrome, congenital, 15, without tubular aggregates 616227, Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031, Disorder of N-glycosylation
Congenital Disorders of Glycosylation v0.163 SRD5A3 Zornitza Stark Marked gene: SRD5A3 as ready
Congenital Disorders of Glycosylation v0.163 SRD5A3 Zornitza Stark Gene: srd5a3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.163 SRD5A3 Zornitza Stark Phenotypes for gene: SRD5A3 were changed from to Congenital disorder of glycosylation, type Iq, MIM# 612379; Kahrizi syndrome, MIM# 612713
Congenital Disorders of Glycosylation v0.162 SRD5A3 Zornitza Stark Publications for gene: SRD5A3 were set to
Congenital Disorders of Glycosylation v0.161 SRD5A3 Zornitza Stark Mode of inheritance for gene: SRD5A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.160 SRD5A3 Zornitza Stark reviewed gene: SRD5A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32424323; Phenotypes: Congenital disorder of glycosylation, type Iq, MIM# 612379, Kahrizi syndrome, MIM# 612713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.160 ALG12 Zornitza Stark Marked gene: ALG12 as ready
Congenital Disorders of Glycosylation v0.160 ALG12 Zornitza Stark Gene: alg12 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.160 ALG12 Zornitza Stark Phenotypes for gene: ALG12 were changed from to Congenital disorder of glycosylation, type Ig 607143
Congenital Disorders of Glycosylation v0.159 ALG12 Zornitza Stark Publications for gene: ALG12 were set to
Congenital Disorders of Glycosylation v0.158 ALG12 Zornitza Stark Mode of inheritance for gene: ALG12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.157 ALG11 Zornitza Stark Marked gene: ALG11 as ready
Congenital Disorders of Glycosylation v0.157 ALG11 Zornitza Stark Gene: alg11 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.157 ALG11 Zornitza Stark Phenotypes for gene: ALG11 were changed from to Congenital disorder of glycosylation, type Ip, MIM# 613661
Congenital Disorders of Glycosylation v0.156 ALG11 Zornitza Stark Publications for gene: ALG11 were set to
Congenital Disorders of Glycosylation v0.155 ALG11 Zornitza Stark Mode of inheritance for gene: ALG11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.154 ALG1 Zornitza Stark Marked gene: ALG1 as ready
Congenital Disorders of Glycosylation v0.154 ALG1 Zornitza Stark Gene: alg1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.154 ALG1 Zornitza Stark Phenotypes for gene: ALG1 were changed from to Congenital disorder of glycosylation, type Ik 608540
Congenital Disorders of Glycosylation v0.153 ALG1 Zornitza Stark Publications for gene: ALG1 were set to
Congenital Disorders of Glycosylation v0.152 ALG1 Zornitza Stark Mode of inheritance for gene: ALG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.151 ALG14 Sarah Donoghue reviewed gene: ALG14: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30221345, PMID: 28733338, PMID: 23404334; Phenotypes: Intellectual disability, epilepsy, dysmorphic features, myasthenia, hypotonia, cerebral atrophy, contractures, congenital myasthenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.151 ALG12 Sarah Donoghue edited their review of gene: ALG12: Added comment: Usually type I CDG pattern; Changed phenotypes: Dysmorphic features, Psychomotor delay, Seizures, Ocular abnormalities, Sensorineural hearing loss, Hypotonia, Failure to thrive/short stature, Cardiac Abnormalities, Genitourinary abnormalities, Recurrent infections, Hypogammaglobulinaemia, Coagulation abnormalities, Abnormal liver enzymes, Lipid abnormalities, Abnormal transferrin IEF, Abnormal brain imaging, Microcephaly, Skeletal malformations
Congenital Disorders of Glycosylation v0.151 ALG12 Sarah Donoghue reviewed gene: ALG12: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31481313; Phenotypes: Dysmorphic features, Psychomotor delay, Seizures, Ocular abnormalities, Sensorineural hearing loss, Hypotonia, Failure to thrive/short stature, Cardiac Abnormalities, Genitourinary abnormalities, Recurrent infections, Hypogammaglobulinaemia, Coagulation abnormalities, Abnormal liver enzymes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.151 ALG11 Sarah Donoghue reviewed gene: ALG11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30676690; Phenotypes: Developmental disability, Epilepsy, Dysmorphic features, Microcephaly, Hypotonia, Hypertonia, Hyperreflexia, Sensorineural deafness, Eye/Visual Problems, Feeding problems; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital Disorders of Glycosylation v0.151 ALG1 Sarah Donoghue reviewed gene: ALG1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26931382; Phenotypes: Developmental delay, Intellectual disability, Hypotonia, Seizure/Epilepsy, Visual Involvement, Microcephaly, Abnormal Brain Imaging, Facial Dysmorphism, Haematological, Gastrointestinal, Skeletal Abnormalities, Hypoalbuminaemia, Recurrent infections, Liver dysfunction, Cardiac Abnormalities, Renal Abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital Disorders of Glycosylation v0.151 NGLY1 Zornitza Stark Marked gene: NGLY1 as ready
Congenital Disorders of Glycosylation v0.151 NGLY1 Zornitza Stark Gene: ngly1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.151 NGLY1 Zornitza Stark Phenotypes for gene: NGLY1 were changed from to Congenital disorder of deglycosylation, MIM# 615273
Congenital Disorders of Glycosylation v0.150 NGLY1 Zornitza Stark Publications for gene: NGLY1 were set to
Congenital Disorders of Glycosylation v0.149 NGLY1 Zornitza Stark Mode of inheritance for gene: NGLY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.148 NGLY1 Zornitza Stark reviewed gene: NGLY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24651605, 27388694, 32259258; Phenotypes: Congenital disorder of deglycosylation, MIM# 615273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.148 LFNG Zornitza Stark Marked gene: LFNG as ready
Congenital Disorders of Glycosylation v0.148 LFNG Zornitza Stark Gene: lfng has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.148 LFNG Zornitza Stark Phenotypes for gene: LFNG were changed from to Spondylocostal dysostosis 3, autosomal recessive, MIM# 609813
Congenital Disorders of Glycosylation v0.147 LFNG Zornitza Stark Publications for gene: LFNG were set to
Congenital Disorders of Glycosylation v0.146 LFNG Zornitza Stark Mode of inheritance for gene: LFNG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.145 LFNG Zornitza Stark Classified gene: LFNG as Green List (high evidence)
Congenital Disorders of Glycosylation v0.145 LFNG Zornitza Stark Gene: lfng has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.144 LFNG Zornitza Stark edited their review of gene: LFNG: Changed rating: GREEN
Congenital Disorders of Glycosylation v0.144 LFNG Zornitza Stark changed review comment from: LFNG encodes a fucose-specific beta-1,3-N-acetylglucosaminyltransferase that modifies Notch receptors and alters Notch signaling activity. Two unrelated individuals reported.; to: LFNG encodes a fucose-specific beta-1,3-N-acetylglucosaminyltransferase that modifies Notch receptors and alters Notch signaling activity. Two unrelated individuals reported and two mouse models.
Congenital Disorders of Glycosylation v0.144 LFNG Zornitza Stark edited their review of gene: LFNG: Changed publications: 9690472, 16385447, 30531807, 9690473
Congenital Disorders of Glycosylation v0.144 LFNG Zornitza Stark Classified gene: LFNG as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.144 LFNG Zornitza Stark Gene: lfng has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.143 LFNG Zornitza Stark reviewed gene: LFNG: Rating: AMBER; Mode of pathogenicity: None; Publications: 16385447, 30531807; Phenotypes: Spondylocostal dysostosis 3, autosomal recessive, MIM# 609813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.143 DHDDS Zornitza Stark Marked gene: DHDDS as ready
Congenital Disorders of Glycosylation v0.143 DHDDS Zornitza Stark Gene: dhdds has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.143 DHDDS Zornitza Stark Phenotypes for gene: DHDDS were changed from to Congenital disorder of glycosylation, type 1bb, MIM# 613861
Congenital Disorders of Glycosylation v0.142 DHDDS Zornitza Stark Publications for gene: DHDDS were set to
Congenital Disorders of Glycosylation v0.141 DHDDS Zornitza Stark Mode of inheritance for gene: DHDDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.140 DHDDS Zornitza Stark Classified gene: DHDDS as Red List (low evidence)
Congenital Disorders of Glycosylation v0.140 DHDDS Zornitza Stark Gene: dhdds has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.139 DHDDS Zornitza Stark edited their review of gene: DHDDS: Changed rating: RED
Congenital Disorders of Glycosylation v0.139 DHDDS Zornitza Stark reviewed gene: DHDDS: Rating: ; Mode of pathogenicity: None; Publications: 27343064; Phenotypes: Congenital disorder of glycosylation, type 1bb, MIM# 613861; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.139 ALG14 Zornitza Stark Phenotypes for gene: ALG14 were changed from Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual disability; Disorder of N-glycosylation
Congenital Disorders of Glycosylation v0.138 ALG14 Zornitza Stark edited their review of gene: ALG14: Changed phenotypes: Myasthenic syndrome, congenital, 15, without tubular aggregates 616227, Intellectual disability, Disorder of N-glycosylation
Congenital Disorders of Glycosylation v0.138 ALG14 Zornitza Stark changed review comment from: 5 individuals from unrelated families described in the literature: one with myasthenic syndrome, no report of ID; second with predominantly ID phenotype; and three more with a neurodegenerative phenotype.; to: 5 individuals from unrelated families described in the literature: one with myasthenic syndrome, no report of ID; second with predominantly ID phenotype; and three more with a neurodegenerative phenotype. ALG14 is part of the UDP-GlcNAc transferase, which catalyzes a key step in endoplasmic reticulum N-linked glycosylation
Congenital Disorders of Glycosylation v0.138 B4GALNT1 Zornitza Stark Marked gene: B4GALNT1 as ready
Congenital Disorders of Glycosylation v0.138 B4GALNT1 Zornitza Stark Gene: b4galnt1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.138 B4GALNT1 Zornitza Stark Phenotypes for gene: B4GALNT1 were changed from to Spastic paraplegia 26, autosomal recessive (MIM #609195)
Congenital Disorders of Glycosylation v0.137 B4GALNT1 Zornitza Stark Publications for gene: B4GALNT1 were set to
Congenital Disorders of Glycosylation v0.136 B4GALNT1 Zornitza Stark Mode of inheritance for gene: B4GALNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.135 COG2 Zornitza Stark Marked gene: COG2 as ready
Congenital Disorders of Glycosylation v0.135 COG2 Zornitza Stark Gene: cog2 has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.135 COG2 Zornitza Stark Phenotypes for gene: COG2 were changed from to Congenital disorder of glycosylation, type IIq (MIM# 617395)
Congenital Disorders of Glycosylation v0.134 COG2 Zornitza Stark Publications for gene: COG2 were set to
Congenital Disorders of Glycosylation v0.133 COG2 Zornitza Stark Mode of inheritance for gene: COG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.132 COG2 Zornitza Stark Classified gene: COG2 as Red List (low evidence)
Congenital Disorders of Glycosylation v0.132 COG2 Zornitza Stark Gene: cog2 has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.131 COG2 Ain Roesley reviewed gene: COG2: Rating: RED; Mode of pathogenicity: None; Publications: 24784932; Phenotypes: Congenital disorder of glycosylation, type IIq (MIM# 617395); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.131 B4GALNT1 Paul De Fazio changed review comment from: 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.; to: Summary: 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.
Congenital Disorders of Glycosylation v0.131 B4GALNT1 Paul De Fazio changed review comment from: 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 progressive weakness and spasticity were described in PMID:24103911.; to: 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.
Congenital Disorders of Glycosylation v0.131 B4GALNT1 Paul De Fazio reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746551, 24103911; Phenotypes: Spastic paraplegia 26, autosomal recessive (MIM #609195); Mode of inheritance: None; Current diagnostic: yes
Congenital Disorders of Glycosylation v0.131 GORAB Seb Lunke Marked gene: GORAB as ready
Congenital Disorders of Glycosylation v0.131 GORAB Seb Lunke Gene: gorab has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.131 GORAB Seb Lunke Classified gene: GORAB as Green List (high evidence)
Congenital Disorders of Glycosylation v0.131 GORAB Seb Lunke Gene: gorab has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.130 GORAB Naomi Baker gene: GORAB was added
gene: GORAB was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GORAB were set to PMID: 18348262; 28807865; 30631079.
Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum MIM#231070
Penetrance for gene: GORAB were set to Complete
Review for gene: GORAB was set to GREEN
Added comment: Many individuals reported in consanguineous families with Geroderma osteodysplasticum. Patients often have normal isoelectric focusing of serum transferrin. Recent publication demonstrated that loss of GORAB causes impairment of COPI-mediated retrieval of trans-Golgi
enzymes, resulting in a deficit in glycosylation of secretory cargo proteins, thus supporting the view that defective protein glycosylation is a major disease mechanism in gerodermia osteodysplastica (PMID: 30631079).
Sources: Literature
Congenital Disorders of Glycosylation v0.130 G6PC3 Zornitza Stark Marked gene: G6PC3 as ready
Congenital Disorders of Glycosylation v0.130 G6PC3 Zornitza Stark Gene: g6pc3 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.130 G6PC3 Zornitza Stark Phenotypes for gene: G6PC3 were changed from to Dursun syndrome 612541; Neutropenia, severe congenital 4, autosomal recessive 612541
Congenital Disorders of Glycosylation v0.129 G6PC3 Zornitza Stark Publications for gene: G6PC3 were set to
Congenital Disorders of Glycosylation v0.128 G6PC3 Zornitza Stark Mode of inheritance for gene: G6PC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.127 POMK Seb Lunke Marked gene: POMK as ready
Congenital Disorders of Glycosylation v0.127 POMK Seb Lunke Gene: pomk has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.127 POMK Seb Lunke Mode of inheritance for gene: POMK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.126 POGLUT1 Zornitza Stark Marked gene: POGLUT1 as ready
Congenital Disorders of Glycosylation v0.126 POGLUT1 Zornitza Stark Added comment: Comment when marking as ready: Limited evidence for bi-allelic disease or for CDG association.
Congenital Disorders of Glycosylation v0.126 POGLUT1 Zornitza Stark Gene: poglut1 has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.126 POGLUT1 Zornitza Stark Phenotypes for gene: POGLUT1 were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM# 617232), Dowling-Degos disease 4 (MIM# 615696)
Congenital Disorders of Glycosylation v0.125 POGLUT1 Zornitza Stark Mode of inheritance for gene: POGLUT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.124 POGLUT1 Zornitza Stark Publications for gene: POGLUT1 were set to
Congenital Disorders of Glycosylation v0.123 POGLUT1 Zornitza Stark Mode of inheritance for gene: POGLUT1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Disorders of Glycosylation v0.122 EOGT Seb Lunke Marked gene: EOGT as ready
Congenital Disorders of Glycosylation v0.122 EOGT Seb Lunke Gene: eogt has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.122 EOGT Seb Lunke Phenotypes for gene: EOGT were changed from Adams-Oliver syndrome 4, #615297; scalp aplasia cutis congenita; transverse terminal limb defects to Adams-Oliver syndrome 4 (MIM #615297); scalp aplasia cutis congenita; transverse terminal limb defects
Congenital Disorders of Glycosylation v0.121 POGLUT1 Zornitza Stark Classified gene: POGLUT1 as Red List (low evidence)
Congenital Disorders of Glycosylation v0.121 POGLUT1 Zornitza Stark Gene: poglut1 has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.120 POGLUT1 Zornitza Stark Mode of inheritance for gene: POGLUT1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.119 POGLUT1 Zornitza Stark Classified gene: POGLUT1 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.119 POGLUT1 Zornitza Stark Gene: poglut1 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.118 EOGT Seb Lunke Phenotypes for gene: EOGT were changed from to Adams-Oliver syndrome 4, #615297; scalp aplasia cutis congenita; transverse terminal limb defects
Congenital Disorders of Glycosylation v0.117 EOGT Seb Lunke Mode of inheritance for gene: EOGT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.116 SEC23A Zornitza Stark Marked gene: SEC23A as ready
Congenital Disorders of Glycosylation v0.116 SEC23A Zornitza Stark Gene: sec23a has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.116 SEC23A Zornitza Stark Phenotypes for gene: SEC23A were changed from to Craniolenticulosutural dysplasia (MIM# 607812)
Congenital Disorders of Glycosylation v0.115 SEC23A Zornitza Stark Publications for gene: SEC23A were set to
Congenital Disorders of Glycosylation v0.114 SEC23A Zornitza Stark Mode of inheritance for gene: SEC23A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.113 SEC23A Zornitza Stark Classified gene: SEC23A as Red List (low evidence)
Congenital Disorders of Glycosylation v0.113 SEC23A Zornitza Stark Gene: sec23a has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.112 POFUT1 Seb Lunke Marked gene: POFUT1 as ready
Congenital Disorders of Glycosylation v0.112 POFUT1 Seb Lunke Gene: pofut1 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.112 POFUT1 Seb Lunke Mode of inheritance for gene: POFUT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital Disorders of Glycosylation v0.111 POFUT1 Seb Lunke Classified gene: POFUT1 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.111 POFUT1 Seb Lunke Gene: pofut1 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.110 SLC26A2 Zornitza Stark Marked gene: SLC26A2 as ready
Congenital Disorders of Glycosylation v0.110 SLC26A2 Zornitza Stark Gene: slc26a2 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.110 SLC26A2 Zornitza Stark Phenotypes for gene: SLC26A2 were changed from to Skeletal dysplasia (various)
Congenital Disorders of Glycosylation v0.109 SLC26A2 Zornitza Stark Publications for gene: SLC26A2 were set to
Congenital Disorders of Glycosylation v0.108 SLC26A2 Zornitza Stark Mode of inheritance for gene: SLC26A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.107 SLC26A2 Zornitza Stark Classified gene: SLC26A2 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.107 SLC26A2 Zornitza Stark Gene: slc26a2 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.106 MAGT1 Seb Lunke Marked gene: MAGT1 as ready
Congenital Disorders of Glycosylation v0.106 MAGT1 Seb Lunke Gene: magt1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.106 MAGT1 Seb Lunke Publications for gene: MAGT1 were set to PMID: 31036665
Congenital Disorders of Glycosylation v0.105 MAGT1 Seb Lunke Classified gene: MAGT1 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.105 MAGT1 Seb Lunke Gene: magt1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.104 SLC35A2 Zornitza Stark Marked gene: SLC35A2 as ready
Congenital Disorders of Glycosylation v0.104 SLC35A2 Zornitza Stark Gene: slc35a2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.104 SLC35A2 Zornitza Stark Phenotypes for gene: SLC35A2 were changed from to Congenital disorder of glycosylation, type IIm (MIM #300896)
Congenital Disorders of Glycosylation v0.103 SLC35A2 Zornitza Stark Publications for gene: SLC35A2 were set to
Congenital Disorders of Glycosylation v0.102 SLC35A2 Zornitza Stark Mode of inheritance for gene: SLC35A2 was changed from Unknown 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 v0.101 GMPPA Seb Lunke Marked gene: GMPPA as ready
Congenital Disorders of Glycosylation v0.101 GMPPA Seb Lunke Gene: gmppa has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.101 GMPPA Seb Lunke Mode of inheritance for gene: GMPPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.100 DSE Zornitza Stark Marked gene: DSE as ready
Congenital Disorders of Glycosylation v0.100 DSE Zornitza Stark Added comment: Comment when marking as ready: Link to CDGs unclear.
Congenital Disorders of Glycosylation v0.100 DSE Zornitza Stark Gene: dse has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.100 DSE Zornitza Stark Phenotypes for gene: DSE were changed from to Ehlers-Danlos syndrome, musculocontractural type 2 (MIM# 615539)
Congenital Disorders of Glycosylation v0.99 DSE Zornitza Stark Publications for gene: DSE were set to
Congenital Disorders of Glycosylation v0.98 DSE Zornitza Stark Mode of inheritance for gene: DSE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.97 DSE Zornitza Stark Classified gene: DSE as Red List (low evidence)
Congenital Disorders of Glycosylation v0.97 DSE Zornitza Stark Gene: dse has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.96 G6PC3 Belinda Chong reviewed gene: G6PC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 21385794; Phenotypes: Dursun syndrome 612541, Neutropenia, severe congenital 4, autosomal recessive 612541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.96 POMK Paul De Fazio reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: None; Publications: 23519211, 24556084, 24925318; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 (MIM #615249); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital Disorders of Glycosylation v0.96 POGLUT1 Ain Roesley reviewed gene: POGLUT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27807076, 24387993; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM# 617232), Dowling-Degos disease 4 (MIM# 615696); Mode of inheritance: Other
Congenital Disorders of Glycosylation v0.96 EOGT Dean Phelan reviewed gene: EOGT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23522784, 31368252, 29924900; Phenotypes: scalp aplasia cutis congenita, transverse terminal limb defects; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.96 SEC23A Paul De Fazio changed review comment from: SEC23A is an essential component of coat protein complex II (COPII)-coated vesicles that transport secretory proteins from the endoplasmic reticulum (ER) to the Golgi complex.

Only one family has been reported (PMID:16980979) with a homozygous missense variant and craniolenticulosutural dysplasia (CLSD), with some functional studies supporting pathogenicity.

The same authors later reported another individual with similar phenotype with a paternally inherited heterozygous missense variant, this variant has 91 hets in gnomAD and the father was unaffected (PMID: 21039434). They suggest digenic inheritance but found no other variants in 3 candidate genes.

Zebrafish models lend some support to the gene-disease association (PMID:16980979, 16980978).

This is the only reference to CDG I can find: Two individuals from the same consanguineous family were found to have biallelic variants in SEC23A and MAN1B1 (PMID: 27148587). Patients presented with carbohydrate-deficient transferrin, tall stature, obesity, macrocephaly, and maloccluded teeth (CLSD individuals present with short stature). Parents were healthy carriers for both variants and an unaffected sibling with tall stature carried the heterozygous variant in SEC23A only. The MAN1B1 variant has been previously associated with CDG and short stature. Normal SEC23A levels were identified for all family members. Pro-COL1A1 secretion was increased in patients and siblings. The authors postulate that the SEC23A variants are contributing to the tall stature in the family due to increased pro-COL1A1 secretion, and that this is a digenic disease, but I'm not very convinced.

This gene is not green in any GEL panels. It is on the Invitae CDG panel.

I don't think there is enough evidence for a gene-disease association let alone association with CDG.; to: SEC23A is an essential component of coat protein complex II (COPII)-coated vesicles that transport secretory proteins from the endoplasmic reticulum (ER) to the Golgi complex.

One family has been reported (PMID:16980979) with a homozygous missense variant and craniolenticulosutural dysplasia (CLSD), with some functional studies supporting pathogenicity.

The same authors later reported another individual with similar phenotype with a paternally inherited heterozygous missense variant, this variant has 91 hets in gnomAD and the father was unaffected (PMID: 21039434). They suggest digenic inheritance but found no other variants in 3 candidate genes.

Zebrafish models lend some support to the gene-disease association (PMID:16980979, 16980978).

This is the only reference to CDG I can find: Two individuals from the same consanguineous family were found to have biallelic variants in SEC23A and MAN1B1 (PMID: 27148587). Patients presented with carbohydrate-deficient transferrin, tall stature, obesity, macrocephaly, and maloccluded teeth (CLSD individuals present with short stature). Parents were healthy carriers for both variants and an unaffected sibling with tall stature carried the heterozygous variant in SEC23A only. The MAN1B1 variant has been previously associated with CDG and short stature. Normal SEC23A levels were identified for all family members. Pro-COL1A1 secretion was increased in patients and siblings. The authors postulate that the SEC23A variants are contributing to the tall stature in the family due to increased pro-COL1A1 secretion, and that this is a digenic disease, but I'm not very convinced.

This gene is not green in any GEL panels. It is on the Invitae CDG panel.

I don't think there is enough evidence for a gene-disease association let alone association with CDG.
Congenital Disorders of Glycosylation v0.96 SEC23A Paul De Fazio reviewed gene: SEC23A: Rating: RED; Mode of pathogenicity: None; Publications: 16980979, 21039434, 16980978, 27148587; Phenotypes: Craniolenticulosutural dysplasia (MIM# 607812); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital Disorders of Glycosylation v0.96 POFUT1 Ain Roesley reviewed gene: POFUT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23684010, 29452367, 25157627; Phenotypes: Dowling-Degos disease 2 (MIM# 615327); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital Disorders of Glycosylation v0.96 SLC26A2 Paul De Fazio changed review comment from: Gene-disease association is well-established (OMIM, PMID:11241838) but I can find no evidence that it plays a role in glycosylation.

SLC26A2 encodes a membrane glycoprotein which functions as a sulfate transporter.

From GeneReviews: "Three autosomal recessive disorders, diastrophic dystrophy (DTD), atelosteogenesis type II (AOII), and achondrogenesis type IB (ACG-IB), all result from defective cartilage proteoglycan sulfation...All of these disorders result from different mutations in the DTD gene (SLC26A2), which encodes a plasma membrane sulfate transporter...the heavy demand for sulfate in bone and cartilage proteoglycan synthesis probably explains why the symptoms are most evident in these locations." (https://www.ncbi.nlm.nih.gov/books/NBK453041/)

SLC26A2 is on the Invitae and Mayo Clinic CDG panels. It is listed as a CDG gene on https://glycosmos.org/gdgdbs/index; to: Gene-disease association is well-established (OMIM, PMID:11241838) but I can find no evidence that it plays a direct role in glycosylation.

SLC26A2 encodes a membrane glycoprotein which functions as a sulfate transporter.

From GeneReviews: "Three autosomal recessive disorders, diastrophic dystrophy (DTD), atelosteogenesis type II (AOII), and achondrogenesis type IB (ACG-IB), all result from defective cartilage proteoglycan sulfation...All of these disorders result from different mutations in the DTD gene (SLC26A2), which encodes a plasma membrane sulfate transporter...the heavy demand for sulfate in bone and cartilage proteoglycan synthesis probably explains why the symptoms are most evident in these locations." (https://www.ncbi.nlm.nih.gov/books/NBK453041/)

SLC26A2 is on the Invitae and Mayo Clinic CDG panels. It is listed as a CDG gene on https://glycosmos.org/gdgdbs/index
Congenital Disorders of Glycosylation v0.96 SLC26A2 Paul De Fazio changed review comment from: Gene-disease association is well-established (OMIM, PMID:11241838) but I can find no evidence that it plays a role in glycosylation.

SLC26A2 encodes a membrane glycoprotein which functions as a sulfate transporter.

From GeneReviews: "Three autosomal recessive disorders, diastrophic dystrophy (DTD), atelosteogenesis type II (AOII), and achondrogenesis type IB (ACG-IB), all result from defective cartilage proteoglycan sulfation." (https://www.ncbi.nlm.nih.gov/books/NBK1939/)

SLC26A2 is on the Invitae and Mayo Clinic CDG panels. It is listed as a CDG gene on https://glycosmos.org/gdgdbs/index; to: Gene-disease association is well-established (OMIM, PMID:11241838) but I can find no evidence that it plays a role in glycosylation.

SLC26A2 encodes a membrane glycoprotein which functions as a sulfate transporter.

From GeneReviews: "Three autosomal recessive disorders, diastrophic dystrophy (DTD), atelosteogenesis type II (AOII), and achondrogenesis type IB (ACG-IB), all result from defective cartilage proteoglycan sulfation...All of these disorders result from different mutations in the DTD gene (SLC26A2), which encodes a plasma membrane sulfate transporter...the heavy demand for sulfate in bone and cartilage proteoglycan synthesis probably explains why the symptoms are most evident in these locations." (https://www.ncbi.nlm.nih.gov/books/NBK453041/)

SLC26A2 is on the Invitae and Mayo Clinic CDG panels. It is listed as a CDG gene on https://glycosmos.org/gdgdbs/index
Congenital Disorders of Glycosylation v0.96 SLC26A2 Paul De Fazio changed review comment from: Gene-disease association is well-established (OMIM, PMID:11241838) but I can find no evidence that it plays a role in glycosylation.

SLC26A2 encodes a membrane glycoprotein which functions as a sulfate transporter.

From GeneReviews: "Three autosomal recessive disorders, diastrophic dystrophy (DTD), atelosteogenesis type II (AOII), and achondrogenesis type IB (ACG-IB), all result from defective cartilage proteoglycan sulfation."(https://www.ncbi.nlm.nih.gov/books/NBK1939/)

SLC26A2 is on the Invitae and Mayo Clinic CDG panels. It is listed as a CDG gene on https://glycosmos.org/gdgdbs/index; to: Gene-disease association is well-established (OMIM, PMID:11241838) but I can find no evidence that it plays a role in glycosylation.

SLC26A2 encodes a membrane glycoprotein which functions as a sulfate transporter.

From GeneReviews: "Three autosomal recessive disorders, diastrophic dystrophy (DTD), atelosteogenesis type II (AOII), and achondrogenesis type IB (ACG-IB), all result from defective cartilage proteoglycan sulfation." (https://www.ncbi.nlm.nih.gov/books/NBK1939/)

SLC26A2 is on the Invitae and Mayo Clinic CDG panels. It is listed as a CDG gene on https://glycosmos.org/gdgdbs/index
Congenital Disorders of Glycosylation v0.96 SLC26A2 Paul De Fazio reviewed gene: SLC26A2: Rating: AMBER; Mode of pathogenicity: None; Publications: 11241838; Phenotypes: Skeletal dysplasia (various); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital Disorders of Glycosylation v0.96 MAGT1 Ain Roesley Deleted their comment
Congenital Disorders of Glycosylation v0.96 MAGT1 Ain Roesley edited their review of gene: MAGT1: Added comment: PMID: 31036665;
- 3 affecteds (males; 2x CDG and 1x XMEN)
- All 3 patients have an N-glycosylation defect

PMID: 31714901;
- 23 XMEN patients from 17 families
- glycoproteomic analysis on T cells from 3 patients with XMEN showed defective glycosylation; Changed publications: 31036665, 31714901; Changed phenotypes: Congenital disorder of glycosylation, type Icc (MIM# 301031), Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853)
Congenital Disorders of Glycosylation v0.96 MAGT1 Ain Roesley gene: MAGT1 was added
gene: MAGT1 was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MAGT1 were set to PMID: 31036665
Phenotypes for gene: MAGT1 were set to Congenital disorder of glycosylation, type Icc (MIM# 301031); Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853)
Penetrance for gene: MAGT1 were set to unknown
Review for gene: MAGT1 was set to GREEN
Added comment: PMID: 31036665;
- 3 affecteds (males; 2x CDG and 1x XMEN)
- All 3 patients have an N-glycosylation defect
Sources: Literature
Congenital Disorders of Glycosylation v0.96 SLC35A2 Paul De Fazio changed review comment from: Summary: gene-disease association is well-established. Phenotypes are mostly CNS related. Only a minority have abnormal transferrin glycosylation (10/53 reported individuals according to PMID: 30817854).

3 unrelated individuals with de novo variants reported in PMID:23561849, 2 males and 1 female. The males were mosaic. "In infancy, the commonly used biomarker transferrin showed abnormal glycosylation, but its appearance became normal later in childhood, without any corresponding clinical improvement."

4 unrelated girls with de novo variants and early onset epileptic encephalopathy reported in PMID:24115232 and PMID:27743886. None showed abnormal glycosylation although 'favourable X-inactivation skewing' was noted for some. One more girl with a de novo variant and defective galactosylation of N‐glycans, developmental delay, muscular hypotonia, epileptic seizures, inverted nipples, and visual impairment was described in PMID:25778940.

PMID:30817854 describes another 30 individuals with de novo variants. Only 1 was male (not apparently mosaic), and only 4 had abnormal carbohydrate deficient transferrin.; to: Summary: gene-disease association is well-established. Phenotypes are mostly CNS related (epilepsy, dev delay, etc). Only a minority have abnormal transferrin glycosylation (10/53 reported individuals according to PMID: 30817854).

3 unrelated individuals with de novo variants reported in PMID:23561849, 2 males and 1 female. The males were mosaic. "In infancy, the commonly used biomarker transferrin showed abnormal glycosylation, but its appearance became normal later in childhood, without any corresponding clinical improvement."

4 unrelated girls with de novo variants and early onset epileptic encephalopathy reported in PMID:24115232 and PMID:27743886. None showed abnormal glycosylation although 'favourable X-inactivation skewing' was noted for some. One more girl with a de novo variant and defective galactosylation of N‐glycans, developmental delay, muscular hypotonia, epileptic seizures, inverted nipples, and visual impairment was described in PMID:25778940.

PMID:30817854 describes another 30 individuals with de novo variants. Only 1 was male (not apparently mosaic), and only 4 had abnormal carbohydrate deficient transferrin.
Congenital Disorders of Glycosylation v0.96 SLC35A2 Paul De Fazio changed review comment from: 3 unrelated individuals with de novo variants reported in PMID:23561849, 2 males and 1 female. The males were mosaic. "In infancy, the commonly used biomarker transferrin showed abnormal glycosylation, but its appearance became normal later in childhood, without any corresponding clinical improvement."

4 unrelated girls with de novo variants and early onset epileptic encephalopathy reported in PMID:24115232 and PMID:27743886. None showed abnormal glycosylation although 'favourable X-inactivation skewing' was noted for some. One more girl with a de novo variant and defective galactosylation of N‐glycans, developmental delay, muscular hypotonia, epileptic seizures, inverted nipples, and visual impairment was described in PMID:25778940.

PMID:30817854 describes another 30 individuals with de novo variants. Only 1 was male (not apparently mosaic), and only 4 had abnormal carbohydrate deficient transferrin.; to: Summary: gene-disease association is well-established. Phenotypes are mostly CNS related. Only a minority have abnormal transferrin glycosylation (10/53 reported individuals according to PMID: 30817854).

3 unrelated individuals with de novo variants reported in PMID:23561849, 2 males and 1 female. The males were mosaic. "In infancy, the commonly used biomarker transferrin showed abnormal glycosylation, but its appearance became normal later in childhood, without any corresponding clinical improvement."

4 unrelated girls with de novo variants and early onset epileptic encephalopathy reported in PMID:24115232 and PMID:27743886. None showed abnormal glycosylation although 'favourable X-inactivation skewing' was noted for some. One more girl with a de novo variant and defective galactosylation of N‐glycans, developmental delay, muscular hypotonia, epileptic seizures, inverted nipples, and visual impairment was described in PMID:25778940.

PMID:30817854 describes another 30 individuals with de novo variants. Only 1 was male (not apparently mosaic), and only 4 had abnormal carbohydrate deficient transferrin.
Congenital Disorders of Glycosylation v0.96 SLC35A2 Paul De Fazio 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 v0.96 GMPPA Ain Roesley reviewed gene: GMPPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 24035193, 28574218; Phenotypes: Alacrima, achalasia, and mental retardation syndrome (MIM# 615510); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.96 DSE Ain Roesley reviewed gene: DSE: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23704329; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 2 (MIM# 615539); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.96 DPM1 Zornitza Stark Marked gene: DPM1 as ready
Congenital Disorders of Glycosylation v0.96 DPM1 Zornitza Stark Gene: dpm1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.96 DPM1 Zornitza Stark Phenotypes for gene: DPM1 were changed from to Congenital disorder of glycosylation, type Ie, MIM# 608799
Congenital Disorders of Glycosylation v0.95 DPM1 Zornitza Stark Publications for gene: DPM1 were set to
Congenital Disorders of Glycosylation v0.94 DPM1 Zornitza Stark Mode of inheritance for gene: DPM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.93 DPM1 Zornitza Stark reviewed gene: DPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23856421, 16641202, 10642602, 10642597; Phenotypes: Congenital disorder of glycosylation, type Ie, 608799; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.93 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Congenital Disorders of Glycosylation v0.92 PIGM Zornitza Stark Phenotypes for gene: PIGM were changed from portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events; portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events to portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events; portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events
Congenital Disorders of Glycosylation v0.92 PIGM Zornitza Stark Phenotypes for gene: PIGM were changed from portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events to portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events; portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events
Congenital Disorders of Glycosylation v0.91 ST3GAL3 Zornitza Stark Marked gene: ST3GAL3 as ready
Congenital Disorders of Glycosylation v0.91 ST3GAL3 Zornitza Stark Gene: st3gal3 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.91 NUS1 Zornitza Stark Marked gene: NUS1 as ready
Congenital Disorders of Glycosylation v0.91 NUS1 Zornitza Stark Gene: nus1 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.91 ST3GAL3 Zornitza Stark Phenotypes for gene: ST3GAL3 were changed from to Mental retardation, autosomal recessive 12 MIM# 611090
Congenital Disorders of Glycosylation v0.91 NUS1 Zornitza Stark Publications for gene: NUS1 were set to
Congenital Disorders of Glycosylation v0.90 NUS1 Zornitza Stark Phenotypes for gene: NUS1 were changed from to Congenital disorder of glycosylation, type 1aa, MIM#610463
Congenital Disorders of Glycosylation v0.89 ST3GAL3 Zornitza Stark Publications for gene: ST3GAL3 were set to
Congenital Disorders of Glycosylation v0.88 CCDC115 Zornitza Stark Marked gene: CCDC115 as ready
Congenital Disorders of Glycosylation v0.88 CCDC115 Zornitza Stark Gene: ccdc115 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.88 CCDC115 Zornitza Stark Classified gene: CCDC115 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.88 CCDC115 Zornitza Stark Gene: ccdc115 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.87 ST3GAL3 Zornitza Stark Mode of inheritance for gene: ST3GAL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.86 B3GLCT Zornitza Stark Marked gene: B3GLCT as ready
Congenital Disorders of Glycosylation v0.86 B3GLCT Zornitza Stark Gene: b3glct has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.86 ST3GAL3 Zornitza Stark Classified gene: ST3GAL3 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.86 ST3GAL3 Zornitza Stark Gene: st3gal3 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.85 B3GLCT Zornitza Stark Classified gene: B3GLCT as Green List (high evidence)
Congenital Disorders of Glycosylation v0.85 B3GLCT Zornitza Stark Gene: b3glct has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.84 PAPSS2 Zornitza Stark Marked gene: PAPSS2 as ready
Congenital Disorders of Glycosylation v0.84 PAPSS2 Zornitza Stark Gene: papss2 has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.84 TMEM199 Zornitza Stark Marked gene: TMEM199 as ready
Congenital Disorders of Glycosylation v0.84 TMEM199 Zornitza Stark Gene: tmem199 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.84 TMEM199 Zornitza Stark Classified gene: TMEM199 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.84 TMEM199 Zornitza Stark Gene: tmem199 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.83 PAPSS2 Zornitza Stark Phenotypes for gene: PAPSS2 were changed from to Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847
Congenital Disorders of Glycosylation v0.82 TRIP11 Zornitza Stark Marked gene: TRIP11 as ready
Congenital Disorders of Glycosylation v0.82 TRIP11 Zornitza Stark Gene: trip11 has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.82 PAPSS2 Zornitza Stark Publications for gene: PAPSS2 were set to
Congenital Disorders of Glycosylation v0.81 PAPSS2 Zornitza Stark Mode of inheritance for gene: PAPSS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.80 CCDC115 Ain Roesley gene: CCDC115 was added
gene: CCDC115 was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: CCDC115 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC115 were set to 26833332
Phenotypes for gene: CCDC115 were set to Congenital disorder of glycosylation, type IIo (MIM# 616828)
Penetrance for gene: CCDC115 were set to unknown
Review for gene: CCDC115 was set to GREEN
Added comment: PMID: 26833332
- 8 affecteds from 5 families. Abnormal N-and mucin type O-glycosylation was found on serum proteins, and reduced metabolic labeling of sialic acids was found in fibroblasts.
Sources: Literature
Congenital Disorders of Glycosylation v0.80 PAPSS2 Zornitza Stark Classified gene: PAPSS2 as Red List (low evidence)
Congenital Disorders of Glycosylation v0.80 PAPSS2 Zornitza Stark Gene: papss2 has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.79 TRIP11 Zornitza Stark Mode of inheritance for gene: TRIP11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.78 ALG2 Zornitza Stark Marked gene: ALG2 as ready
Congenital Disorders of Glycosylation v0.78 ALG2 Zornitza Stark Gene: alg2 has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.78 NUS1 Zornitza Stark Mode of inheritance for gene: NUS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.77 NUS1 Zornitza Stark Classified gene: NUS1 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.77 NUS1 Zornitza Stark Gene: nus1 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.76 TRIP11 Zornitza Stark Publications for gene: TRIP11 were set to
Congenital Disorders of Glycosylation v0.76 ALG2 Zornitza Stark Phenotypes for gene: ALG2 were changed from to Congenital disorder of glycosylation, type Ii (MIM# 607906)
Congenital Disorders of Glycosylation v0.75 ALG2 Zornitza Stark Publications for gene: ALG2 were set to
Congenital Disorders of Glycosylation v0.74 TRIP11 Zornitza Stark Classified gene: TRIP11 as Red List (low evidence)
Congenital Disorders of Glycosylation v0.74 TRIP11 Zornitza Stark Gene: trip11 has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.73 TRIP11 Zornitza Stark reviewed gene: TRIP11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Achondrogenesis, type IA MIM# 200600, Osteochondrodysplasia MIM# 184260; Mode of inheritance: None
Congenital Disorders of Glycosylation v0.73 ALG2 Zornitza Stark Mode of inheritance for gene: ALG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.72 ATP6AP1 Zornitza Stark Marked gene: ATP6AP1 as ready
Congenital Disorders of Glycosylation v0.72 ATP6AP1 Zornitza Stark Gene: atp6ap1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.72 ATP6AP1 Zornitza Stark Classified gene: ATP6AP1 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.72 ATP6AP1 Zornitza Stark Gene: atp6ap1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.71 ALG2 Zornitza Stark Classified gene: ALG2 as Red List (low evidence)
Congenital Disorders of Glycosylation v0.71 ALG2 Zornitza Stark Gene: alg2 has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.70 TRAPPC11 Zornitza Stark Marked gene: TRAPPC11 as ready
Congenital Disorders of Glycosylation v0.70 TRAPPC11 Zornitza Stark Gene: trappc11 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.70 ST3GAL3 Paul De Fazio changed review comment from: 1 family described with West syndrome (PMID: 23252400). 2 unrelated consanguineous families described in PMID: 21907012. Functional testing supports abnormal enzyme function in all cases but no biochemical studies on patients.

ST3GAL3 located on chr1p34.1 encodes the β-galactoside-α2,3-sialyltransferase-III (ST3Gal-III), which in humans predominantly forms the sialyl Lewis a (sLe a) epitope on glycoproteins.

This gene is on the Invitae and EGL CDG panels.; to: 1 family described with West syndrome (PMID: 23252400). 2 unrelated consanguineous families described in PMID: 21907012 with ID. Functional testing supports abnormal enzyme function in all cases but no biochemical studies on patients.

ST3GAL3 located on chr1p34.1 encodes the β-galactoside-α2,3-sialyltransferase-III (ST3Gal-III), which in humans predominantly forms the sialyl Lewis a (sLe a) epitope on glycoproteins.

This gene is on the Invitae and EGL CDG panels.
Congenital Disorders of Glycosylation v0.70 ST3GAL3 Paul De Fazio reviewed gene: ST3GAL3: Rating: AMBER; Mode of pathogenicity: None; Publications: 23252400, 21907012; Phenotypes: Mental retardation, autosomal recessive 12 MIM# 611090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital Disorders of Glycosylation v0.70 TRAPPC11 Zornitza Stark Classified gene: TRAPPC11 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.70 TRAPPC11 Zornitza Stark Gene: trappc11 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.69 XYLT2 Zornitza Stark Marked gene: XYLT2 as ready
Congenital Disorders of Glycosylation v0.69 XYLT2 Zornitza Stark Gene: xylt2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.69 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 v0.69 XYLT2 Zornitza Stark Phenotypes for gene: XYLT2 were changed from to Spondyloocular syndrome MIM# 605822
Congenital Disorders of Glycosylation v0.68 XYLT2 Zornitza Stark Classified gene: XYLT2 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.68 XYLT2 Zornitza Stark Gene: xylt2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.67 ALG13 Zornitza Stark Marked gene: ALG13 as ready
Congenital Disorders of Glycosylation v0.67 ALG13 Zornitza Stark Gene: alg13 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.67 ALG13 Zornitza Stark Phenotypes for gene: ALG13 were changed from to Congenital disorder of glycosylation, type Is (MIM# 300884)
Congenital Disorders of Glycosylation v0.66 PIGW Zornitza Stark Marked gene: PIGW as ready
Congenital Disorders of Glycosylation v0.66 PIGW Zornitza Stark Gene: pigw has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.66 PIGW Zornitza Stark Phenotypes for gene: PIGW were changed from to Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025; intractable seizures; West syndrome; severe developmental delay; dysmorphic facial features; hyperphosphatasia; epilepsy; recurrent respiratory infections; hypotonia; stereotypies
Congenital Disorders of Glycosylation v0.65 PIGW Zornitza Stark Publications for gene: PIGW were set to
Congenital Disorders of Glycosylation v0.64 PIGW Zornitza Stark Mode of inheritance for gene: PIGW was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.63 ALG13 Zornitza Stark Publications for gene: ALG13 were set to 22492991; 28887793; 26138355
Congenital Disorders of Glycosylation v0.62 PIGM Zornitza Stark Marked gene: PIGM as ready
Congenital Disorders of Glycosylation v0.62 PIGM Zornitza Stark Gene: pigm has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.62 PIGM Zornitza Stark Tag founder tag was added to gene: PIGM.
Congenital Disorders of Glycosylation v0.62 PIGM Zornitza Stark Phenotypes for gene: PIGM were changed from to portal vein thrombosis; persistent absence seizures; macrocephaly; infantile-onset cerebrovascular thrombotic events
Congenital Disorders of Glycosylation v0.62 ALG13 Zornitza Stark Publications for gene: ALG13 were set to
Congenital Disorders of Glycosylation v0.61 PIGM Zornitza Stark Publications for gene: PIGM were set to
Congenital Disorders of Glycosylation v0.60 ALG13 Zornitza Stark Mode of inheritance for gene: ALG13 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital Disorders of Glycosylation v0.60 PIGM Zornitza Stark Mode of inheritance for gene: PIGM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.59 PIGM Zornitza Stark Classified gene: PIGM as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.59 PIGM Zornitza Stark Gene: pigm has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.58 ALG13 Zornitza Stark Classified gene: ALG13 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.58 ALG13 Zornitza Stark Gene: alg13 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.57 B3GLCT Ain Roesley gene: B3GLCT was added
gene: B3GLCT was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GLCT were set to 18199743; 16909395
Phenotypes for gene: B3GLCT were set to Peters-plus syndrome (MIM# 261540)
Penetrance for gene: B3GLCT were set to unknown
Review for gene: B3GLCT was set to GREEN
Added comment: PMID: 18199743
- 4 affecteds including 1 pair of siblings with mass spec analysis from patients' serum showing defective O-glycosylation

PMID: 16909395
- 20 affecteds from 15 families with no defective N-glycosylation however authors did not examine O-glycosylation and concluded that absence of defective glycosylation cannot be completely ruled out
Sources: Literature
Congenital Disorders of Glycosylation v0.57 TMEM199 Paul De Fazio gene: TMEM199 was added
gene: TMEM199 was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: TMEM199 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM199 were set to 26833330; 29321044
Phenotypes for gene: TMEM199 were set to Congenital disorder of glycosylation, type IIp MIM# 616829
Review for gene: TMEM199 was set to GREEN
gene: TMEM199 was marked as current diagnostic
Added comment: 4 patients from 3 unrelated families with a mild metabolic disorder primarily affecting the liver (PMID: 26833330). 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.

A follow up publication described 3 more unrelated cases with protein glycosylation deficiency, supporting the original paper (PMID: 29321044).

Although this gene is red on PanelApp UK it has 2 green reviews (and no others).
Sources: Literature
Congenital Disorders of Glycosylation v0.57 PAPSS2 Naomi Baker reviewed gene: PAPSS2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 22791835, 25594860, 31461705, 23633440, 9771708, 19474428.; Phenotypes: Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.57 NUS1 Belinda Chong reviewed gene: NUS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 610463, 25066056; Phenotypes: Congenital disorder of glycosylation, type 1aa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.57 TRIP11 Paul De Fazio reviewed gene: TRIP11: Rating: AMBER; Mode of pathogenicity: None; Publications: 29872333, 20089971, 30728324, 30518689; Phenotypes: Achondrogenesis, type IA MIM# 200600, Osteochondrodysplasia MIM# 184260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital Disorders of Glycosylation v0.57 ATP6AP1 Ain Roesley gene: ATP6AP1 was added
gene: ATP6AP1 was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: ATP6AP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6AP1 were set to PMID: 27231034
Phenotypes for gene: ATP6AP1 were set to immunodeficiency-47 (MIM# 300972)
Penetrance for gene: ATP6AP1 were set to unknown
Review for gene: ATP6AP1 was set to GREEN
Added comment: PMID: 27231034
- 11 males from 6 families with defective glycosylation
Sources: Literature
Congenital Disorders of Glycosylation v0.57 ALG2 Ain Roesley reviewed gene: ALG2: Rating: RED; Mode of pathogenicity: None; Publications: 12684507, 23404334, 24461433; Phenotypes: Congenital disorder of glycosylation, type Ii (MIM# 607906); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.57 TRAPPC11 Paul De Fazio changed review comment from: Association with a multisystem disorder including muscular dystrophy is established (green in our Muscular dystrophy gene list).

Biochemical studies in zebrafish show that TRAPPC11 is involved in protein glycosylation (PMID: 26912795). The authors proposed that TRAPPC11 may function as a scaffold for enzymes of protein N-glycosylation or as a cofactor for an enzyme in lipid-linked oligosaccharide synthesis.

Patients with homozygous or compound heterozygous TRAPPC11 variants have been found to have abnormal glycosylation of the LAMP1/LAMP2 proteins (PMID: 23830518, 27707803). TRAPPC11 has been implicated in α-dystroglycan hypoglycosylation (PMID: 29855340).

A patient with biallelic TRAPPC11 variants was found to have abnormal transferrin and Apo CIII glycosylation patterns, consistent with a CDG (PMID: 27862579).

TRAPPC11-CDG has been suggested to be a "Novel CDG in ER to Golgi trafficking
" (PMID: 28484880)
Sources: Literature; to: Association with a multisystem disorder including muscular dystrophy is established (green in our Muscular dystrophy gene list).

Biochemical studies in zebrafish show that TRAPPC11 is involved in protein glycosylation (PMID: 26912795). The authors proposed that TRAPPC11 may function as a scaffold for enzymes of protein N-glycosylation or as a cofactor for an enzyme in lipid-linked oligosaccharide synthesis.

Patients with homozygous or compound heterozygous TRAPPC11 variants have been found to have abnormal glycosylation of the LAMP1/LAMP2 proteins (PMID: 23830518, 27707803). TRAPPC11 has been implicated in α-dystroglycan hypoglycosylation (PMID: 29855340).

A patient with biallelic TRAPPC11 variants was found to have abnormal transferrin and Apo CIII glycosylation patterns, consistent with a CDG (PMID: 27862579).

TRAPPC11-CDG has been suggested to be a "Novel CDG in ER to Golgi trafficking" (PMID: 28484880)
Sources: Literature
Congenital Disorders of Glycosylation v0.57 TRAPPC11 Paul De Fazio gene: TRAPPC11 was added
gene: TRAPPC11 was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC11 were set to 23830518; 26322222; 29855340; 30105108; 26912795; 27707803; 27862579; 28484880
Phenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM# 615356
Review for gene: TRAPPC11 was set to GREEN
gene: TRAPPC11 was marked as current diagnostic
Added comment: Association with a multisystem disorder including muscular dystrophy is established (green in our Muscular dystrophy gene list).

Biochemical studies in zebrafish show that TRAPPC11 is involved in protein glycosylation (PMID: 26912795). The authors proposed that TRAPPC11 may function as a scaffold for enzymes of protein N-glycosylation or as a cofactor for an enzyme in lipid-linked oligosaccharide synthesis.

Patients with homozygous or compound heterozygous TRAPPC11 variants have been found to have abnormal glycosylation of the LAMP1/LAMP2 proteins (PMID: 23830518, 27707803). TRAPPC11 has been implicated in α-dystroglycan hypoglycosylation (PMID: 29855340).

A patient with biallelic TRAPPC11 variants was found to have abnormal transferrin and Apo CIII glycosylation patterns, consistent with a CDG (PMID: 27862579).

TRAPPC11-CDG has been suggested to be a "Novel CDG in ER to Golgi trafficking
" (PMID: 28484880)
Sources: Literature
Congenital Disorders of Glycosylation v0.57 XYLT2 Paul De Fazio edited their review of gene: XYLT2: Changed phenotypes: Spondyloocular syndrome MIM# 605822
Congenital Disorders of Glycosylation v0.57 XYLT2 Paul De Fazio gene: XYLT2 was added
gene: XYLT2 was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XYLT2 were set to 26027496; 26987875; 30891060; 28484880
Review for gene: XYLT2 was set to GREEN
gene: XYLT2 was marked as current diagnostic
Added comment: 5 unrelated individuals/families in total described with Spondylo-Ocular Syndrome (PMID: 26027496, 26987875, 30891060).

XYLT2-CDG has been referred to as a "proteoglycan ‘linker’ glycan disorder" (PMID: 28484880)
Sources: Literature
Congenital Disorders of Glycosylation v0.57 PIGW Dean Phelan changed review comment from: OMIM - Glycosylphosphatidylinositol biosynthesis defect 11, AR

Function - Glycosylphosphatidylinositol (GPI) is a complex glycolipid that anchors many proteins to the cell surface. PIGW acts in the third step of GPI biosynthesis and acylates the inositol ring of phosphatidylinositol

Clingen - no association with CGD

PMID: 24367057 - (2013) - A patient born to non-consanguineous parents developed intractable seizures with typical hypsarrhythmic pattern in electroencephalography, and was diagnosed as having West syndrome. Because the patient showed severe developmental delay with dysmorphic facial features and hyperphosphatasia, characteristics often seen in IGDs, the patient was tested for GPI deficiency. The patient had decreased surface expression of GPI-APs on blood granulocytes and was identified to be compound heterozygous for NM_178517:c.211A>C and c.499A>G mutations in PIGW.

PMID: 27626616 - (2016) Two second-degree cousins with unexplained patterns of seizures. Next-generation sequencing identified the homozygous c.460A>G; p.(R154G) PIGW mutation in both patients. Transfection of the mutated allele into Pigw-defective CHO cells indicated impaired enzymatic activity of the mutated PIGW product. The patients' phenotype is remarkably different from the phenotype of the only other described individual with PIGW mutations.

PMID: 30813920 - (2019) A Chinese boy with compound heterozygous PIGW mutations who suffers from severe pneumonia, mental retardation, and epilepsy. A 70-day-old boy presented with fever and cough over 20 days in duration at the time of admission. At the age of 6 months, unusual facial features were apparent, and seizures were clinically observed, accompanied by obvious cognitive delay. Next-generation sequencing identified novel PIGW c.178G > A and c.462A > T mutations

PMID: 32198969 - (2020) A new patient with a novel homozygous missense variant in PIGW, who presented with hypotonia, severe intellectual disability, early-onset epileptic seizures, brain abnormalities, nystagmus, hand stereotypies, recurrent respiratory infections, distinctive facial features, and hyperphosphatasia. Our report expands the phenotype of GPI biosynthesis defect 11 to include stereotypies and recurrent respiratory infections.; to: OMIM - Glycosylphosphatidylinositol biosynthesis defect 11, AR

Function - Glycosylphosphatidylinositol (GPI) is a complex glycolipid that anchors many proteins to the cell surface. PIGW acts in the third step of GPI biosynthesis and acylates the inositol ring of phosphatidylinositol

Clingen - no association with CGD

PMID: 24367057 - (2013) - A patient born to non-consanguineous parents developed intractable seizures with typical hypsarrhythmic pattern in electroencephalography, and was diagnosed as having West syndrome. Because the patient showed severe developmental delay with dysmorphic facial features and hyperphosphatasia, characteristics often seen in IGDs, the patient was tested for GPI deficiency. The patient had decreased surface expression of GPI-APs on blood granulocytes and was identified to be compound heterozygous for NM_178517:c.211A>C and c.499A>G mutations in PIGW.

PMID: 27626616 - (2016) Two second-degree cousins with unexplained patterns of seizures. Next-generation sequencing identified the homozygous c.460A>G; p.(R154G) PIGW mutation in both patients. Transfection of the mutated allele into Pigw-defective CHO cells indicated impaired enzymatic activity of the mutated PIGW product. The patients' phenotype is remarkably different from the phenotype of the only other described individual with PIGW mutations.

PMID: 30813920 - (2019) A Chinese boy with compound heterozygous PIGW mutations who suffers from severe pneumonia, mental retardation, and epilepsy. A 70-day-old boy presented with fever and cough over 20 days in duration at the time of admission. At the age of 6 months, unusual facial features were apparent, and seizures were clinically observed, accompanied by obvious cognitive delay. Next-generation sequencing identified novel PIGW c.178G > A and c.462A > T mutations

PMID: 32198969 - (2020) A new patient with a novel homozygous missense variant in PIGW, who presented with hypotonia, severe intellectual disability, early-onset epileptic seizures, brain abnormalities, nystagmus, hand stereotypies, recurrent respiratory infections, distinctive facial features, and hyperphosphatasia. Our report expands the phenotype of GPI biosynthesis defect 11 to include stereotypies and recurrent respiratory infections.

Summary - Multiple unrelated families reported with different recessive variants either homozygous or compound heterozygous. Functional studies showed impaired enzymatic activity
Congenital Disorders of Glycosylation v0.57 PIGW Dean Phelan reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24367057, 27626616, 30813920, 32198969; Phenotypes: intractable seizures, West syndrome, severe developmental delay, dysmorphic facial features, hyperphosphatasia, epilepsy, recurrent respiratory infections, hypotonia, stereotypies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.57 PIGM Dean Phelan reviewed gene: PIGM: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31445883, 16767100; Phenotypes: portal vein thrombosis, persistent absence seizures, macrocephaly, infantile-onset cerebrovascular thrombotic events; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.57 ALG13 Ain Roesley reviewed gene: ALG13: Rating: AMBER; Mode of pathogenicity: None; Publications: 22492991, 28887793, 26138355; Phenotypes: Congenital disorder of glycosylation, type Is (MIM# 300884); Mode of inheritance: 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 v0.57 DPM2 Zornitza Stark Marked gene: DPM2 as ready
Congenital Disorders of Glycosylation v0.57 DPM2 Zornitza Stark Gene: dpm2 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.57 DPM2 Zornitza Stark Phenotypes for gene: DPM2 were changed from to Congenital disorder of glycosylation, type Iu, MIM#615042
Congenital Disorders of Glycosylation v0.56 DPM2 Zornitza Stark Publications for gene: DPM2 were set to
Congenital Disorders of Glycosylation v0.55 DPM2 Zornitza Stark Mode of inheritance for gene: DPM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.54 DPM2 Zornitza Stark Classified gene: DPM2 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.54 DPM2 Zornitza Stark Gene: dpm2 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.53 DPM2 Zornitza Stark reviewed gene: DPM2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23109149; Phenotypes: Congenital disorder of glycosylation, type Iu, MIM#615042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.53 COG4 Zornitza Stark Marked gene: COG4 as ready
Congenital Disorders of Glycosylation v0.53 COG4 Zornitza Stark Gene: cog4 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.53 COG4 Zornitza Stark Phenotypes for gene: COG4 were changed from to Congenital disorder of glycosylation, type IIj 613489
Congenital Disorders of Glycosylation v0.52 COG4 Zornitza Stark Publications for gene: COG4 were set to
Congenital Disorders of Glycosylation v0.51 COG4 Zornitza Stark Mode of inheritance for gene: COG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.50 COG4 Zornitza Stark reviewed gene: COG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21185756, 19494034; Phenotypes: Congenital disorder of glycosylation, type IIj 613489; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.50 MOGS Zornitza Stark Marked gene: MOGS as ready
Congenital Disorders of Glycosylation v0.50 MOGS Zornitza Stark Gene: mogs has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.50 MOGS Zornitza Stark Phenotypes for gene: MOGS were changed from to Congenital disorder of glycosylation, type IIb, MIM# 606056
Congenital Disorders of Glycosylation v0.49 MOGS Zornitza Stark Publications for gene: MOGS were set to
Congenital Disorders of Glycosylation v0.48 MOGS Zornitza Stark Mode of inheritance for gene: MOGS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.47 MOGS Zornitza Stark reviewed gene: MOGS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31925597; Phenotypes: Congenital disorder of glycosylation, type IIb, MIM# 606056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.47 MAN2B2 Zornitza Stark Marked gene: MAN2B2 as ready
Congenital Disorders of Glycosylation v0.47 MAN2B2 Zornitza Stark Gene: man2b2 has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.47 MAN2B2 Zornitza Stark 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
Phenotypes for gene: MAN2B2 were set to Congenital disorder of glycosylation; immunodeficiency
Review for gene: MAN2B2 was set to RED
Added comment: Single individual reported.
Sources: Literature
Congenital Disorders of Glycosylation v0.46 CSGALNACT1 Zornitza Stark Marked gene: CSGALNACT1 as ready
Congenital Disorders of Glycosylation v0.46 CSGALNACT1 Zornitza Stark Gene: csgalnact1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.46 CSGALNACT1 Zornitza Stark Classified gene: CSGALNACT1 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.46 CSGALNACT1 Zornitza Stark Gene: csgalnact1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.45 CSGALNACT1 Zornitza Stark gene: CSGALNACT1 was added
gene: CSGALNACT1 was added to Congenital Disorders of Glycosylation. Sources: Literature
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.
Sources: Literature
Congenital Disorders of Glycosylation v0.44 GALNT2 Zornitza Stark Marked gene: GALNT2 as ready
Congenital Disorders of Glycosylation v0.44 GALNT2 Zornitza Stark Gene: galnt2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.44 GALNT2 Zornitza Stark Classified gene: GALNT2 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.44 GALNT2 Zornitza Stark Gene: galnt2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.43 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
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.
Sources: Literature
Congenital Disorders of Glycosylation v0.42 SSR4 Zornitza Stark Marked gene: SSR4 as ready
Congenital Disorders of Glycosylation v0.42 SSR4 Zornitza Stark Gene: ssr4 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.42 SSR4 Zornitza Stark Classified gene: SSR4 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.42 SSR4 Zornitza Stark Gene: ssr4 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.41 SSR4 Zornitza Stark gene: SSR4 was added
gene: SSR4 was added to Congenital Disorders of Glycosylation. Sources: Expert list
Mode of inheritance for gene: SSR4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SSR4 were set to Congenital disorder of glycosylation, type Iy, MIM#300934
Review for gene: SSR4 was set to GREEN
Added comment: Sources: Expert list
Congenital Disorders of Glycosylation v0.40 MAN1B1 Zornitza Stark Marked gene: MAN1B1 as ready
Congenital Disorders of Glycosylation v0.40 MAN1B1 Zornitza Stark Gene: man1b1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.40 MAN1B1 Zornitza Stark Phenotypes for gene: MAN1B1 were changed from to Mental retardation, autosomal recessive 15, MIM#614202
Congenital Disorders of Glycosylation v0.39 MAN1B1 Zornitza Stark Mode of inheritance for gene: MAN1B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.38 MAN1B1 Zornitza Stark reviewed gene: MAN1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal recessive 15, MIM#614202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.38 ALG14 Zornitza Stark Marked gene: ALG14 as ready
Congenital Disorders of Glycosylation v0.38 ALG14 Zornitza Stark Gene: alg14 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.38 ALG14 Zornitza Stark Phenotypes for gene: ALG14 were changed from to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227
Congenital Disorders of Glycosylation v0.37 ALG14 Zornitza Stark Publications for gene: ALG14 were set to
Congenital Disorders of Glycosylation v0.37 ALG14 Zornitza Stark Mode of inheritance for gene: ALG14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.36 PMM2 Zornitza Stark Marked gene: PMM2 as ready
Congenital Disorders of Glycosylation v0.36 PMM2 Zornitza Stark Gene: pmm2 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.36 PMM2 Zornitza Stark Phenotypes for gene: PMM2 were changed from to Congenital disorder of glycosylation, type Ia 212065
Congenital Disorders of Glycosylation v0.35 PMM2 Zornitza Stark Publications for gene: PMM2 were set to
Congenital Disorders of Glycosylation v0.34 PMM2 Zornitza Stark Mode of inheritance for gene: PMM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.33 PMM2 Melanie Marty reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21541725; Phenotypes: Congenital disorder of glycosylation, type Ia 212065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital Disorders of Glycosylation v0.33 CHST8 Zornitza Stark Marked gene: CHST8 as ready
Congenital Disorders of Glycosylation v0.33 CHST8 Zornitza Stark Gene: chst8 has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.33 CHST8 Zornitza Stark Phenotypes for gene: CHST8 were changed from to Peeling Skin Syndrome
Congenital Disorders of Glycosylation v0.32 CHST8 Zornitza Stark Publications for gene: CHST8 were set to
Congenital Disorders of Glycosylation v0.31 CHST8 Zornitza Stark Mode of inheritance for gene: CHST8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.30 CHST8 Zornitza Stark Classified gene: CHST8 as Red List (low evidence)
Congenital Disorders of Glycosylation v0.30 CHST8 Zornitza Stark Gene: chst8 has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.29 CHST8 Elena Savva reviewed gene: CHST8: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 22289416, 28204496; Phenotypes: Peeling Skin Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.29 STT3B Zornitza Stark Marked gene: STT3B as ready
Congenital Disorders of Glycosylation v0.29 STT3B Zornitza Stark Gene: stt3b has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.29 STT3B Zornitza Stark Mode of inheritance for gene: STT3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.29 STT3B Zornitza Stark Phenotypes for gene: STT3B were changed from Congenital disorder of glycosylation, type Ix 615597 to Congenital disorder of glycosylation, type Ix 615597
Congenital Disorders of Glycosylation v0.28 STT3B Zornitza Stark Phenotypes for gene: STT3B were changed from to Congenital disorder of glycosylation, type Ix 615597
Congenital Disorders of Glycosylation v0.28 STT3B Zornitza Stark Publications for gene: STT3B were set to
Congenital Disorders of Glycosylation v0.27 STT3B Zornitza Stark Classified gene: STT3B as Red List (low evidence)
Congenital Disorders of Glycosylation v0.27 STT3B Zornitza Stark Gene: stt3b has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v0.26 STT3B Zornitza Stark reviewed gene: STT3B: Rating: RED; Mode of pathogenicity: None; Publications: 23842455; Phenotypes: Congenital disorder of glycosylation, type Ix 615597; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.26 SLC39A8 Zornitza Stark Marked gene: SLC39A8 as ready
Congenital Disorders of Glycosylation v0.26 SLC39A8 Zornitza Stark Gene: slc39a8 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.26 SLC39A8 Zornitza Stark Classified gene: SLC39A8 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.26 SLC39A8 Zornitza Stark Gene: slc39a8 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.25 SLC39A8 Zornitza Stark gene: SLC39A8 was added
gene: SLC39A8 was added to Congenital Disorders of Glycosylation. Sources: Expert Review
Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A8 were set to 26637978; 26637979
Phenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn , MIM#16721
Review for gene: SLC39A8 was set to GREEN
gene: SLC39A8 was marked as current diagnostic
Added comment: 6 individuals from Hutterite descent and two other unrelated families reported.
Sources: Expert Review
Congenital Disorders of Glycosylation v0.24 SLC35A1 Zornitza Stark Marked gene: SLC35A1 as ready
Congenital Disorders of Glycosylation v0.24 SLC35A1 Zornitza Stark Gene: slc35a1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.24 PGM1 Zornitza Stark Marked gene: PGM1 as ready
Congenital Disorders of Glycosylation v0.24 PGM1 Zornitza Stark Gene: pgm1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.24 PGM1 Zornitza Stark Phenotypes for gene: PGM1 were changed from to Congenital disorder of glycosylation, type It 614921
Congenital Disorders of Glycosylation v0.23 SLC35A1 Zornitza Stark Phenotypes for gene: SLC35A1 were changed from to Congenital disorder of glycosylation, type IIf, MIM# 603585
Congenital Disorders of Glycosylation v0.22 SLC35A1 Zornitza Stark Publications for gene: SLC35A1 were set to
Congenital Disorders of Glycosylation v0.21 SLC35A1 Zornitza Stark Mode of inheritance for gene: SLC35A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.20 SLC35A1 Zornitza Stark reviewed gene: SLC35A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28856833, 23873973, 11157507; Phenotypes: Congenital disorder of glycosylation, type IIf, MIM# 603585; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.20 PIGS Zornitza Stark Marked gene: PIGS as ready
Congenital Disorders of Glycosylation v0.20 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.20 PIGS Zornitza Stark Classified gene: PIGS as Green List (high evidence)
Congenital Disorders of Glycosylation v0.20 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.19 PIGS Zornitza Stark gene: PIGS was added
gene: PIGS was added to Congenital Disorders of Glycosylation. Sources: Expert Review
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
Added comment: Three unrelated families reported. Severe neurological phenotype ranging from fetal akinesia to ID/EE.
Sources: Expert Review
Congenital Disorders of Glycosylation v0.18 PGM1 Zornitza Stark Publications for gene: PGM1 were set to
Congenital Disorders of Glycosylation v0.17 PGM1 Zornitza Stark Mode of inheritance for gene: PGM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.16 PGM1 Zornitza Stark reviewed gene: PGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24499211; Phenotypes: Congenital disorder of glycosylation, type It 614921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.16 FUK Zornitza Stark Marked gene: FUK as ready
Congenital Disorders of Glycosylation v0.16 FUK Zornitza Stark Gene: fuk has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.16 FUK Zornitza Stark Classified gene: FUK as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.16 FUK Zornitza Stark Gene: fuk has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.15 FUK Zornitza Stark gene: FUK was added
gene: FUK was added to Congenital Disorders of Glycosylation. Sources: Literature
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: Literature
Congenital Disorders of Glycosylation v0.14 FUT8 Zornitza Stark Marked gene: FUT8 as ready
Congenital Disorders of Glycosylation v0.14 FUT8 Zornitza Stark Gene: fut8 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.14 FUT8 Zornitza Stark Classified gene: FUT8 as Green List (high evidence)
Congenital Disorders of Glycosylation v0.14 FUT8 Zornitza Stark Gene: fut8 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.13 FUT8 Zornitza Stark gene: FUT8 was added
gene: FUT8 was added to Congenital Disorders of Glycosylation. Sources: Expert list
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
Review for gene: FUT8 was set to GREEN
gene: FUT8 was marked as current diagnostic
Added comment: Three unrelated individuals reported.
Sources: Expert list
Congenital Disorders of Glycosylation v0.12 DDOST Zornitza Stark Marked gene: DDOST as ready
Congenital Disorders of Glycosylation v0.12 DDOST Zornitza Stark Gene: ddost has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.12 DDOST Zornitza Stark Phenotypes for gene: DDOST were changed from to Congenital disorder of glycosylation, type Ir, MIM# 614507
Congenital Disorders of Glycosylation v0.11 DDOST Zornitza Stark Publications for gene: DDOST were set to
Congenital Disorders of Glycosylation v0.10 DDOST Zornitza Stark Mode of inheritance for gene: DDOST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.9 DDOST Zornitza Stark Classified gene: DDOST as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.9 DDOST Zornitza Stark Gene: ddost has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.8 DDOST Zornitza Stark reviewed gene: DDOST: Rating: AMBER; Mode of pathogenicity: None; Publications: 22305527; Phenotypes: Congenital disorder of glycosylation, type Ir, MIM# 614507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.8 Zornitza Stark Panel name changed from Congenital Disorders of Glycosylation_VCGS to Congenital Disorders of Glycosylation
Panel types changed to Victorian Clinical Genetics Services
Congenital Disorders of Glycosylation v0.7 SLC35A3 Zornitza Stark Marked gene: SLC35A3 as ready
Congenital Disorders of Glycosylation v0.7 SLC35A3 Zornitza Stark Added comment: Comment when marking as ready: 1 family with 2 sibs, with segregation but no functional studies.

1 family with 8 affected people. The mutations segregated with the disorder in the family. Patient cells showed no normal transcript, indicating that they had no functional SLC35A3 protein. Golgi vesicles derived from patient fibroblasts showed significantly reduced transport of UDP-GlCNAc compared to controls.
Congenital Disorders of Glycosylation v0.7 SLC35A3 Zornitza Stark Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.7 SLC35A3 Zornitza Stark Mode of inheritance for gene: SLC35A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.6 SLC35A3 Zornitza Stark Publications for gene: SLC35A3 were set to
Congenital Disorders of Glycosylation v0.5 SLC35A3 Zornitza Stark Phenotypes for gene: SLC35A3 were changed from to Arthrogryposis, mental retardation, and seizures; OMIM #615553
Congenital Disorders of Glycosylation v0.4 SLC35A3 Zornitza Stark Classified gene: SLC35A3 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.4 SLC35A3 Zornitza Stark Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.3 STT3A Zornitza Stark Marked gene: STT3A as ready
Congenital Disorders of Glycosylation v0.3 STT3A Zornitza Stark Gene: stt3a has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.3 STT3A Zornitza Stark Phenotypes for gene: STT3A were changed from to Congenital disorder of glycosylation, type Iw; OMIM #615596
Congenital Disorders of Glycosylation v0.2 STT3A Zornitza Stark Publications for gene: STT3A were set to
Congenital Disorders of Glycosylation v0.1 STT3A Zornitza Stark Mode of inheritance for gene: STT3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.0 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
Congenital Disorders of Glycosylation v0.0 B4GALT1 Zornitza Stark Marked gene: B4GALT1 as ready
Congenital Disorders of Glycosylation v0.0 B4GALT1 Zornitza Stark Gene: b4galt1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.0 B4GALT1 Zornitza Stark reviewed gene: B4GALT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11901181, 30653653, 21920538; Phenotypes: Congenital disorder of glycosylation, type Iid, MIM#607091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital Disorders of Glycosylation v0.0 ALG14 Zornitza Stark reviewed gene: ALG14: Rating: GREEN; Mode of pathogenicity: None; Publications: 30221345, 23404334, 28733338; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital Disorders of Glycosylation v0.0 XYLT1 Zornitza Stark gene: XYLT1 was added
gene: XYLT1 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: XYLT1 was set to Unknown
Congenital Disorders of Glycosylation v0.0 TUSC3 Zornitza Stark gene: TUSC3 was added
gene: TUSC3 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUSC3 was set to Unknown
Congenital Disorders of Glycosylation v0.0 TRIP11 Zornitza Stark gene: TRIP11 was added
gene: TRIP11 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRIP11 was set to Unknown
Congenital Disorders of Glycosylation v0.0 TMEM165 Zornitza Stark gene: TMEM165 was added
gene: TMEM165 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM165 was set to Unknown
Congenital Disorders of Glycosylation v0.0 STT3B Zornitza Stark gene: STT3B was added
gene: STT3B was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STT3B was set to Unknown
Congenital Disorders of Glycosylation v0.0 STT3A Zornitza Stark gene: STT3A was added
gene: STT3A was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STT3A was set to Unknown
Congenital Disorders of Glycosylation v0.0 ST3GAL5 Zornitza Stark gene: ST3GAL5 was added
gene: ST3GAL5 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ST3GAL5 was set to Unknown
Congenital Disorders of Glycosylation v0.0 ST3GAL3 Zornitza Stark gene: ST3GAL3 was added
gene: ST3GAL3 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ST3GAL3 was set to Unknown
Congenital Disorders of Glycosylation v0.0 SRD5A3 Zornitza Stark gene: SRD5A3 was added
gene: SRD5A3 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SRD5A3 was set to Unknown
Congenital Disorders of Glycosylation v0.0 SLC35D1 Zornitza Stark gene: SLC35D1 was added
gene: SLC35D1 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC35D1 was set to Unknown
Congenital Disorders of Glycosylation v0.0 SLC35C1 Zornitza Stark gene: SLC35C1 was added
gene: SLC35C1 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC35C1 was set to Unknown
Congenital Disorders of Glycosylation v0.0 SLC35A3 Zornitza Stark gene: SLC35A3 was added
gene: SLC35A3 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC35A3 was set to Unknown
Congenital Disorders of Glycosylation v0.0 SLC35A2 Zornitza Stark gene: SLC35A2 was added
gene: SLC35A2 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC35A2 was set to Unknown
Congenital Disorders of Glycosylation v0.0 SLC35A1 Zornitza Stark gene: SLC35A1 was added
gene: SLC35A1 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC35A1 was set to Unknown
Congenital Disorders of Glycosylation v0.0 SLC26A2 Zornitza Stark gene: SLC26A2 was added
gene: SLC26A2 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC26A2 was set to Unknown
Congenital Disorders of Glycosylation v0.0 SEC23B Zornitza Stark gene: SEC23B was added
gene: SEC23B was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SEC23B was set to Unknown
Congenital Disorders of Glycosylation v0.0 SEC23A Zornitza Stark gene: SEC23A was added
gene: SEC23A was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SEC23A was set to Unknown
Congenital Disorders of Glycosylation v0.0 TMEM5 Zornitza Stark gene: TMEM5 was added
gene: TMEM5 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM5 was set to Unknown
Congenital Disorders of Glycosylation v0.0 RFT1 Zornitza Stark gene: RFT1 was added
gene: RFT1 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RFT1 was set to Unknown
Congenital Disorders of Glycosylation v0.0 POMT2 Zornitza Stark gene: POMT2 was added
gene: POMT2 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMT2 was set to Unknown
Congenital Disorders of Glycosylation v0.0 POMT1 Zornitza Stark gene: POMT1 was added
gene: POMT1 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMT1 was set to Unknown
Congenital Disorders of Glycosylation v0.0 POMK Zornitza Stark gene: POMK was added
gene: POMK was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMK was set to Unknown
Congenital Disorders of Glycosylation v0.0 POMGNT2 Zornitza Stark gene: POMGNT2 was added
gene: POMGNT2 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMGNT2 was set to Unknown
Congenital Disorders of Glycosylation v0.0 POMGNT1 Zornitza Stark gene: POMGNT1 was added
gene: POMGNT1 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMGNT1 was set to Unknown
Congenital Disorders of Glycosylation v0.0 POGLUT1 Zornitza Stark gene: POGLUT1 was added
gene: POGLUT1 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POGLUT1 was set to Unknown
Congenital Disorders of Glycosylation v0.0 POFUT1 Zornitza Stark gene: POFUT1 was added
gene: POFUT1 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POFUT1 was set to Unknown
Congenital Disorders of Glycosylation v0.0 PMM2 Zornitza Stark gene: PMM2 was added
gene: PMM2 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PMM2 was set to Unknown
Congenital Disorders of Glycosylation v0.0 PIGW Zornitza Stark gene: PIGW was added
gene: PIGW was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIGW was set to Unknown
Congenital Disorders of Glycosylation v0.0 PIGV Zornitza Stark gene: PIGV was added
gene: PIGV was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIGV was set to Unknown
Congenital Disorders of Glycosylation v0.0 PIGT Zornitza Stark gene: PIGT was added
gene: PIGT was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIGT was set to Unknown
Congenital Disorders of Glycosylation v0.0 PIGO Zornitza Stark gene: PIGO was added
gene: PIGO was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIGO was set to Unknown
Congenital Disorders of Glycosylation v0.0 PIGN Zornitza Stark gene: PIGN was added
gene: PIGN was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIGN was set to Unknown
Congenital Disorders of Glycosylation v0.0 PIGM Zornitza Stark gene: PIGM was added
gene: PIGM was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIGM was set to Unknown
Congenital Disorders of Glycosylation v0.0 PIGL Zornitza Stark gene: PIGL was added
gene: PIGL was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIGL was set to Unknown
Congenital Disorders of Glycosylation v0.0 PIGA Zornitza Stark gene: PIGA was added
gene: PIGA was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIGA was set to Unknown
Congenital Disorders of Glycosylation v0.0 PGM3 Zornitza Stark gene: PGM3 was added
gene: PGM3 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PGM3 was set to Unknown
Congenital Disorders of Glycosylation v0.0 PGM1 Zornitza Stark gene: PGM1 was added
gene: PGM1 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PGM1 was set to Unknown
Congenital Disorders of Glycosylation v0.0 PGAP3 Zornitza Stark gene: PGAP3 was added
gene: PGAP3 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PGAP3 was set to Unknown
Congenital Disorders of Glycosylation v0.0 PGAP2 Zornitza Stark gene: PGAP2 was added
gene: PGAP2 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PGAP2 was set to Unknown
Congenital Disorders of Glycosylation v0.0 PAPSS2 Zornitza Stark gene: PAPSS2 was added
gene: PAPSS2 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PAPSS2 was set to Unknown
Congenital Disorders of Glycosylation v0.0 NUS1 Zornitza Stark gene: NUS1 was added
gene: NUS1 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NUS1 was set to Unknown
Congenital Disorders of Glycosylation v0.0 NGLY1 Zornitza Stark gene: NGLY1 was added
gene: NGLY1 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NGLY1 was set to Unknown
Congenital Disorders of Glycosylation v0.0 MPI Zornitza Stark gene: MPI was added
gene: MPI was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MPI was set to Unknown
Congenital Disorders of Glycosylation v0.0 MPDU1 Zornitza Stark gene: MPDU1 was added
gene: MPDU1 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MPDU1 was set to Unknown
Congenital Disorders of Glycosylation v0.0 MOGS Zornitza Stark gene: MOGS was added
gene: MOGS was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MOGS was set to Unknown
Congenital Disorders of Glycosylation v0.0 MGAT2 Zornitza Stark gene: MGAT2 was added
gene: MGAT2 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MGAT2 was set to Unknown
Congenital Disorders of Glycosylation v0.0 MAN1B1 Zornitza Stark gene: MAN1B1 was added
gene: MAN1B1 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MAN1B1 was set to Unknown
Congenital Disorders of Glycosylation v0.0 LFNG Zornitza Stark gene: LFNG was added
gene: LFNG was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LFNG was set to Unknown
Congenital Disorders of Glycosylation v0.0 LARGE1 Zornitza Stark gene: LARGE1 was added
gene: LARGE1 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LARGE1 was set to Unknown
Congenital Disorders of Glycosylation v0.0 ISPD Zornitza Stark gene: ISPD was added
gene: ISPD was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ISPD was set to Unknown
Congenital Disorders of Glycosylation v0.0 GNE Zornitza Stark gene: GNE was added
gene: GNE was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GNE was set to Unknown
Congenital Disorders of Glycosylation v0.0 GMPPB Zornitza Stark gene: GMPPB was added
gene: GMPPB was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GMPPB was set to Unknown
Congenital Disorders of Glycosylation v0.0 GMPPA Zornitza Stark gene: GMPPA was added
gene: GMPPA was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GMPPA was set to Unknown
Congenital Disorders of Glycosylation v0.0 GFPT1 Zornitza Stark gene: GFPT1 was added
gene: GFPT1 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GFPT1 was set to Unknown
Congenital Disorders of Glycosylation v0.0 GALNT3 Zornitza Stark gene: GALNT3 was added
gene: GALNT3 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GALNT3 was set to Unknown
Congenital Disorders of Glycosylation v0.0 G6PC3 Zornitza Stark gene: G6PC3 was added
gene: G6PC3 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: G6PC3 was set to Unknown
Congenital Disorders of Glycosylation v0.0 FKTN Zornitza Stark gene: FKTN was added
gene: FKTN was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FKTN was set to Unknown
Congenital Disorders of Glycosylation v0.0 FKRP Zornitza Stark gene: FKRP was added
gene: FKRP was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FKRP was set to Unknown
Congenital Disorders of Glycosylation v0.0 EXT2 Zornitza Stark gene: EXT2 was added
gene: EXT2 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EXT2 was set to Unknown
Congenital Disorders of Glycosylation v0.0 EXT1 Zornitza Stark gene: EXT1 was added
gene: EXT1 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EXT1 was set to Unknown
Congenital Disorders of Glycosylation v0.0 EOGT Zornitza Stark gene: EOGT was added
gene: EOGT was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EOGT was set to Unknown
Congenital Disorders of Glycosylation v0.0 DSE Zornitza Stark gene: DSE was added
gene: DSE was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DSE was set to Unknown
Congenital Disorders of Glycosylation v0.0 DPM3 Zornitza Stark gene: DPM3 was added
gene: DPM3 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DPM3 was set to Unknown
Congenital Disorders of Glycosylation v0.0 DPM2 Zornitza Stark gene: DPM2 was added
gene: DPM2 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DPM2 was set to Unknown
Congenital Disorders of Glycosylation v0.0 DPM1 Zornitza Stark gene: DPM1 was added
gene: DPM1 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DPM1 was set to Unknown
Congenital Disorders of Glycosylation v0.0 DPAGT1 Zornitza Stark gene: DPAGT1 was added
gene: DPAGT1 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DPAGT1 was set to Unknown
Congenital Disorders of Glycosylation v0.0 DOLK Zornitza Stark gene: DOLK was added
gene: DOLK was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DOLK was set to Unknown
Congenital Disorders of Glycosylation v0.0 DHDDS Zornitza Stark gene: DHDDS was added
gene: DHDDS was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DHDDS was set to Unknown
Congenital Disorders of Glycosylation v0.0 DDOST Zornitza Stark gene: DDOST was added
gene: DDOST was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DDOST was set to Unknown
Congenital Disorders of Glycosylation v0.0 COG8 Zornitza Stark gene: COG8 was added
gene: COG8 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COG8 was set to Unknown
Congenital Disorders of Glycosylation v0.0 COG7 Zornitza Stark gene: COG7 was added
gene: COG7 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COG7 was set to Unknown
Congenital Disorders of Glycosylation v0.0 COG6 Zornitza Stark gene: COG6 was added
gene: COG6 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COG6 was set to Unknown
Congenital Disorders of Glycosylation v0.0 COG5 Zornitza Stark gene: COG5 was added
gene: COG5 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COG5 was set to Unknown
Congenital Disorders of Glycosylation v0.0 COG4 Zornitza Stark gene: COG4 was added
gene: COG4 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COG4 was set to Unknown
Congenital Disorders of Glycosylation v0.0 COG2 Zornitza Stark gene: COG2 was added
gene: COG2 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COG2 was set to Unknown
Congenital Disorders of Glycosylation v0.0 COG1 Zornitza Stark gene: COG1 was added
gene: COG1 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COG1 was set to Unknown
Congenital Disorders of Glycosylation v0.0 CHSY1 Zornitza Stark gene: CHSY1 was added
gene: CHSY1 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHSY1 was set to Unknown
Congenital Disorders of Glycosylation v0.0 CHST8 Zornitza Stark gene: CHST8 was added
gene: CHST8 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHST8 was set to Unknown
Congenital Disorders of Glycosylation v0.0 CHST6 Zornitza Stark gene: CHST6 was added
gene: CHST6 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHST6 was set to Unknown
Congenital Disorders of Glycosylation v0.0 CHST3 Zornitza Stark gene: CHST3 was added
gene: CHST3 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHST3 was set to Unknown
Congenital Disorders of Glycosylation v0.0 CHST14 Zornitza Stark gene: CHST14 was added
gene: CHST14 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHST14 was set to Unknown
Congenital Disorders of Glycosylation v0.0 B4GALT7 Zornitza Stark gene: B4GALT7 was added
gene: B4GALT7 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: B4GALT7 was set to Unknown
Congenital Disorders of Glycosylation v0.0 B4GALT1 Zornitza Stark gene: B4GALT1 was added
gene: B4GALT1 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: B4GALT1 was set to Unknown
Congenital Disorders of Glycosylation v0.0 B4GALNT1 Zornitza Stark gene: B4GALNT1 was added
gene: B4GALNT1 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: B4GALNT1 was set to Unknown
Congenital Disorders of Glycosylation v0.0 B3GAT3 Zornitza Stark gene: B3GAT3 was added
gene: B3GAT3 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: B3GAT3 was set to Unknown
Congenital Disorders of Glycosylation v0.0 B3GALT6 Zornitza Stark gene: B3GALT6 was added
gene: B3GALT6 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: B3GALT6 was set to Unknown
Congenital Disorders of Glycosylation v0.0 B3GALNT2 Zornitza Stark gene: B3GALNT2 was added
gene: B3GALNT2 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: B3GALNT2 was set to Unknown
Congenital Disorders of Glycosylation v0.0 ATP6V0A2 Zornitza Stark gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATP6V0A2 was set to Unknown
Congenital Disorders of Glycosylation v0.0 ALG9 Zornitza Stark gene: ALG9 was added
gene: ALG9 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALG9 was set to Unknown
Congenital Disorders of Glycosylation v0.0 ALG8 Zornitza Stark gene: ALG8 was added
gene: ALG8 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALG8 was set to Unknown
Congenital Disorders of Glycosylation v0.0 ALG6 Zornitza Stark gene: ALG6 was added
gene: ALG6 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALG6 was set to Unknown
Congenital Disorders of Glycosylation v0.0 ALG3 Zornitza Stark gene: ALG3 was added
gene: ALG3 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALG3 was set to Unknown
Congenital Disorders of Glycosylation v0.0 ALG2 Zornitza Stark gene: ALG2 was added
gene: ALG2 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALG2 was set to Unknown
Congenital Disorders of Glycosylation v0.0 ALG14 Zornitza Stark gene: ALG14 was added
gene: ALG14 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALG14 was set to Unknown
Congenital Disorders of Glycosylation v0.0 ALG13 Zornitza Stark gene: ALG13 was added
gene: ALG13 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALG13 was set to Unknown
Congenital Disorders of Glycosylation v0.0 ALG12 Zornitza Stark gene: ALG12 was added
gene: ALG12 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALG12 was set to Unknown
Congenital Disorders of Glycosylation v0.0 ALG11 Zornitza Stark gene: ALG11 was added
gene: ALG11 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALG11 was set to Unknown
Congenital Disorders of Glycosylation v0.0 ALG1 Zornitza Stark gene: ALG1 was added
gene: ALG1 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALG1 was set to Unknown
Congenital Disorders of Glycosylation v0.0 Zornitza Stark Added panel Congenital Disorders of Glycosylation_VCGS