Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: GNPTAB
Ho et al report an infant case with MSS CSS and mutation in GNPTAB. Other cases in the literature have not been molecularly confirmed? Refs 81-84 in Twigg & Wilkie. Unpublished Oxford case. GeneReviews don't mention CSS - 'skull relatively normal CSS is regularly suspected but not formally confirmed'. Amber or green? added by GOSH: Cathey et al (2010) reported 14 ML II patients with craniofacial and/or skeletal abnormalities noted on the first day of life. GNPTAB pathogenic mutations identified and characterised. Alfadhel et al (2013) reported three ML II unrelated Saudi children with neonatal hyperparathyroidism, microcephaly, craniosynostosis, coarse facial features, cardiac involvement, and skeletal deformities. ; Review on behalf of Tracy Lester/Andrew Wilkie/GOSHCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucolipidosis II alpha/beta(I cell disease) - 252500
Publications
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: GNPTAB; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
Comment when marking as ready: Craniosynostosis is a recognised complication of I-cell disease but diagnosis requires other clinical features to be present and should be confirmed biochemicallyCreated: 1 Feb 2016, 11:13 a.m.
Craniosynostosis is a recognised complication of I-cell disease but diagnosis requires other clinical features to be present and should be confirmed biochemicallyCreated: 14 Sep 2015, 3:21 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
I-cell disease
Publications
Added phenotypes Mucolipidosis II alpha/beta(I cell disease) 252500 for gene: GNPTAB
Source NHS GMS was added to GNPTAB. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for GNPTAB were set to 252500
Publications for GNPTAB were set to 24891900
Mode of inheritance for GNPTAB was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
GNPTAB was added to Craniosynostosis syndromespanel. Sources: Expert list