SPECC1L

sperm antigen with calponin homology and coiled-coil domains 1 like
OMIM: 614140, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green SPECC1L in Congenital diaphragmatic hernia Level 2: Dysmorphic and congenital abnormality syndromes Version 1.14	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Opitz GBBB syndrome, type II, MIM# 145410
Green SPECC1L in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.68	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Hypertelorism, Teebi type MIM#145420 Opitz GBBB syndrome, type II, MIM#145410
Green SPECC1L in Frontonasal dysplasia Level 2: Dysmorphic and congenital abnormality syndromes Version 1.1	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Opitz GBBB syndrome, type II, MIM# 145410 Hypertelorism, Teebi type, MIM# 145420
Green SPECC1L in Mendeliome Version 1.1902	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypertelorism, Teebi type, MIM# 145420 Opitz GBBB syndrome, type II, MIM#145410
Green SPECC1L in Pierre Robin Sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 0.47	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SPECC1L in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SPECC1L in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Teebi hypertelorism syndrome 1, MIM# 145420
Red SPECC1L in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	Other	Sources Expert Review Green Radboud University Medical Center, Nijmegen Expert list Expert Review Red Victorian Clinical Genetics Services Phenotypes Facial clefting, oblique, 1 600251 Opitz GBBB syndrome, type II 145410 Teebi hyperterorism like syndrome 145420
Green SPECC1L in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes GBBB2 ?Facial clefting, oblique, 1, 600251 Opitz GBBB syndrome, type II (with clefting), 145410 OPITZ GBBB SYNDROME, TYPE II
Green SPECC1L in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Opitz GBBB syndrome, type II, MIM# 145410 Autosomal dominant Opitz G/BBB syndrome, MONDO:0007779