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Differences of Sex Development v1.11 UGGT1 Krithika Murali Mode of inheritance for gene: UGGT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v1.11 UGGT1 Krithika Murali Mode of inheritance for gene: UGGT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v1.10 UGGT1 Krithika Murali Marked gene: UGGT1 as ready
Differences of Sex Development v1.10 UGGT1 Krithika Murali Gene: uggt1 has been classified as Green List (High Evidence).
Differences of Sex Development v1.10 UGGT1 Krithika Murali Classified gene: UGGT1 as Green List (high evidence)
Differences of Sex Development v1.10 UGGT1 Krithika Murali Gene: uggt1 has been classified as Green List (High Evidence).
Differences of Sex Development v1.10 UGGT1 Krithika Murali Classified gene: UGGT1 as Green List (high evidence)
Differences of Sex Development v1.10 UGGT1 Krithika Murali Gene: uggt1 has been classified as Green List (High Evidence).
Differences of Sex Development v1.9 UGGT1 Krithika Murali changed review comment from: Genitourinary anomalies such as cryptorchidism reported

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PMID: 40267907 Dardas et al 2025 report 15 affected individuals from 10 unrelated families with biallelic UGGT1 variants. Affected individuals had GDD and intellectual disability of varying severity.

Other cardinal clinical features included microcephaly, seizures, craniofacial dysmorphism, and behavioral abnormalities (autism, ADHD). More variable features included congenital heart disease, cryptorchism; renal anomalies; hepatomegaly; recurrent infections; and skeletal anomalies (scoliosis and/or vertebral anomalies).

Supportive functional evidence also provided.
Sources: Literature; to: Genitourinary anomalies such as cryptorchidism reported

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PMID: 40267907 Dardas et al 2025 report 15 affected individuals from 10 unrelated families with biallelic UGGT1 variants. Affected individuals had GDD and intellectual disability of varying severity.

Other cardinal clinical features included microcephaly, seizures, craniofacial dysmorphism, and behavioral abnormalities (autism, ADHD). More variable features included congenital heart disease, cryptorchism; renal anomalies; hepatomegaly; recurrent infections; and skeletal anomalies (scoliosis and/or vertebral anomalies).

Supportive functional evidence also provided.
Sources: Literature
Differences of Sex Development v1.9 UGGT1 Krithika Murali changed review comment from: Genitourinary anomalies such as cryptorchidism reported

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PMID: 40267907 Dardas et al 2025 report 15 affected individuals from 10 unrelated families with biallelic UGGT1 variants. Affected individuals had GDD and intellectual disability of varying severity.

Other cardinal clinical features included microcephaly, seizures, craniofacial dysmorphism, and behavioral abnormalities (autism, ADHD). More variable features included congenital heart disease, cryptorchism; renal anomalies; hepatomegaly; recurrent infections; and skeletal anomalies (scoliosis and/or vertebral anomalies).

Supportive functional evidence also provided.
Sources: Literature; to: Genitourinary anomalies such as cryptorchidism reported

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PMID: 40267907 Dardas et al 2025 report 15 affected individuals from 10 unrelated families with biallelic UGGT1 variants. Affected individuals had GDD and intellectual disability of varying severity.

Other cardinal clinical features included microcephaly, seizures, craniofacial dysmorphism, and behavioral abnormalities (autism, ADHD). More variable features included congenital heart disease, cryptorchism; renal anomalies; hepatomegaly; recurrent infections; and skeletal anomalies (scoliosis and/or vertebral anomalies).

Supportive functional evidence also provided.
Sources: Literature
Differences of Sex Development v1.9 UGGT1 Krithika Murali gene: UGGT1 was added
gene: UGGT1 was added to Differences of Sex Development. Sources: Literature
Mode of inheritance for gene: UGGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UGGT1 were set to Congenital disorder of glycosylation - MONDO:0015286; UGGT1-CDG
Review for gene: UGGT1 was set to GREEN
Added comment: Genitourinary anomalies such as cryptorchidism reported

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PMID: 40267907 Dardas et al 2025 report 15 affected individuals from 10 unrelated families with biallelic UGGT1 variants. Affected individuals had GDD and intellectual disability of varying severity.

Other cardinal clinical features included microcephaly, seizures, craniofacial dysmorphism, and behavioral abnormalities (autism, ADHD). More variable features included congenital heart disease, cryptorchism; renal anomalies; hepatomegaly; recurrent infections; and skeletal anomalies (scoliosis and/or vertebral anomalies).

Supportive functional evidence also provided.
Sources: Literature