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  3. TRAPPC11
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Fetal anomalies

Gene: TRAPPC11

Amber List (moderate evidence)
TRAPPC11 (trafficking protein particle complex 11)
EnsemblGeneIds (GRCh38): ENSG00000168538
EnsemblGeneIds (GRCh37): ENSG00000168538
OMIM: 614138, Gene2Phenotype
TRAPPC11 is in 7 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
This review was provided by Alison Male from North Thames GLH: Currently amber. Green in muscular dystophy panels. PMID:26322222 - cataracts identified at 2; not clear age of onset. PMID:23830518 - short stature and 1 case of cataracts but no info on age of onset. PMID:28827486 - IUGR<1% for age but mother had preeclampsia and placenta had abnomral appearance (suggsting lysosomal storage disorder). Height remained below 1st centile. Sister IUGR but again mother had preeclampsia. Did have congenital cataracts though. PMID:38564972 - review of 54 patients; 6/31 IUGR, cataracts 5/46, cerebral atrophy 23/40, scoliosis 14/32. Specific case Fetal ultrasonography at 32 weeks revealed polyhydramnios and triventricular ventriculomegaly.His weight was 2250 g (_0.01 SD), length 44 cm (_0.29 SD), and occipitofrontal circumference (OFC) 34 cm (1.92 SD). Borderline.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 18, OMIM:615356

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.36

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 18, OMIM:615356
OMIM
614138
Clinvar variants
Variants in TRAPPC11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Aug 2024, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: TRAPPC11 were changed from MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S to Muscular dystrophy, limb-girdle, autosomal recessive 18, OMIM:615356

30 Aug 2024, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: TRAPPC11 were set to

8 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: TRAPPC11 was added gene: TRAPPC11 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRAPPC11 were set to MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S