Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: SPECC1L
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 WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Opitz G/BBB syndrome type 2
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: 26111080Created: 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: greenCreated: 5 Mar 2019, 11:21 a.m.
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 delayCreated: 15 Sep 2015, 9:39 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Opitz G/BBB syndrome type II
Publications
Phenotypes for gene: SPECC1L were changed from Opitz G/BBB syndrome type 2 to Opitz GBBB syndrome, type II 145410
Gene: specc1l has been classified as Green List (High Evidence).
Added phenotypes Opitz G/BBB syndrome type 2 for gene: SPECC1L
Publications for gene: SPECC1L were set to 25412741
Publications for gene: SPECC1L were set to 25412741
Source NHS GMS was added to SPECC1L.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been removed from the panel.
SPECC1L was added to Craniosynostosis syndromes phenotypespanel. Sources: Expert Review