Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: SPECC1L

Green List (high evidence)

Kruska et al 2015 report 2 families, one had metopic CSS and second had sagittal CSS. Bhoj et al 2015 report a further case with Teebi hypertelorism with MSS. ; Review on behalf of Tracy Lester/Andrew Wilkie

Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Opitz G/BBB syndrome type 2

I don't know

Comment on list classification: Upgrading from red to green. Green rating agreed at the GMS musculoskeletal specialist test group Webex on 2019-05-13.

Created: 21 May 2019, 12:37 p.m.

Comment on publications: Kruska et al 2015 PMID: 25412741, Bhoj et al 2015 PMID: 26111080

Created: 2 May 2019, 10:07 p.m.

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: SPECC1L; Suggested initial gene rating: green

Created: 5 Mar 2019, 11:21 a.m.

Red List (low evidence)

Recently recognised, frequency of craniosynostosis not known, other clinical features include hypertelorism, down-slanting palpebral fissures, broad nasal bridge, cleft lip/palate, micrognathia, laryngealtracheoesophagel anomalies, congenital heart defects, developmental delay

Created: 15 Sep 2015, 9:39 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Opitz G/BBB syndrome type II

Publications

• 25412741