Structural eye disease
Gene: SCLT1
PMID:30425282: 1 case Senior-Loken syndrome compound het. PMID:30237576: 2 sibs homozygous isolated panhypopituitarism and hypothalamic hamartoma. PMID:28005958 non-syndromic retinal dystrophy. PMID:24285566: 1 homozygote, midline cleft, microcephaly, and colobomatous microphathalmia/anophthalmia. PMID:29450879: 1 homozygote, microphthalmia/anophthalmia. Since there is only a small number of case reports, the phenotypes are very variable, and the mouse model does not have eye anomalies, it would be better to make this gene Amber until further evidence is available.Created: 21 Jun 2019, 2:11 p.m. | Last Modified: 21 Jun 2019, 2:11 p.m.
Panel Version: 0.81
Publications
FC - Homozygous mutation reported in 2 cases with a phenotype including coloboma (PMID: 27894351;24285566) and 1 case with syndromic AMC (PMID: 29450879). I couldn't check the phenotype of the parents. In the mouse model described by Li et al., 2017 (PMID: 28486600) no eye anomalies were described.Created: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome IX (a severe ciliopathy phenotype featuring midline cleft, microcephaly, and colobomatous microphthalmia/anophthalmia, one case only (Adly et al 2014), variant was classified as unknown significance by OMIM); None
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). FC - Homozygous mutation reported in 2 cases with a phenotype including coloboma (PMID: 27894351;24285566) and 1 case with syndromic AMC (PMID: 29450879). I couldn't check the phenotype of the parents. In the mouse model described by Li et al., 2017 (PMID: 28486600) no eye anomalies were described.Created: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome IX (a severe ciliopathy phenotype featuring midline cleft, microcephaly, and colobomatous microphthalmia/anophthalmia, one case only (Adly et al 2014), variant was classified as unknown significance by OMIM); None
Publications
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: SCLT1 were set to 29450879; 24285566; 27894351; 28486600; 30425282; 30237576; 24285566; 29450879
Publications for gene: SCLT1 were set to 29450879; 24285566; 27894351; 28486600
Source Expert Review Amber was added to SCLT1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Publications for gene: SCLT1 were set to 29450879; 24285566
gene: SCLT1 was added gene: SCLT1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCLT1 were set to 29450879; 24285566 Phenotypes for gene: SCLT1 were set to Orofaciodigital syndrome IX (a severe ciliopathy phenotype featuring midline cleft, microcephaly, and colobomatous microphthalmia/anophthalmia, one case only (Adly et al 2014), variant was classified as unknown significance by OMIM); None