CEP135

centrosomal protein 135
OMIM: 611423, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Red CEP135 in Autism Version 0.36	review	Not set	Sources Expert Review Red SFARI
Green CEP135 in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 5.7 Latest signed off version: v5.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green UKGTN Other Literature Expert list Phenotypes MCPH primary microcephaly Autosomal recessive primary microcephaly (MCPH) ?Microcephaly 8, primary, autosomal recessive, 614673 Primary Microcephaly and Disturbed Centrosomal Function, 614673
Green CEP135 in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes Microcephaly 8, primary, autosomal recessive, OMIM:614673 Microcephaly 8, primary, autosomal recessive, MONDO:0013849
Green CEP135 in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION 614673
Green CEP135 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.13 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Microcephaly 8, primary, autosomal recessive, 614673 PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION
Green CEP135 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Microcephaly 8, primary, autosomal recessive, 614673