The Leeds Teaching Hospitals NHS Trust

CM panels

Previous CM panels

Genes and Disorders (ref. CM panel v.1.0)

Gene OMIM number Disease (Inheritance Pattern) OMIM disease number Reference sequence
ADGRG1 (aka GPR56) *604110 Polymicrogyria, bilateral frontoparietal (AR) #606854 NM_005682.6
ARX *300382 Lissencephaly, X-linked 2 (XL) #300215 NM_139058.2
DCX *300121 Lissencephaly, X-linked (XL) #300067 NM_178152.2
NDE1 *609449 Lissencephaly 4 (with microcephaly) (AR) #614019 NM_001143979.1
PAFAH1B1 *601545 Lissencephaly 1 (AD) #607432 NM_000430.3
TUBA1A *602529 Lissencephaly 3 (AD) #611603 NM_006009.3
TUBA8 *605742 Polymicrogyria with optic nerve hypoplasia (AR) #613180 NM_018943.2
TUBB2B *612850 Polymicrogyria, symmetric or asymmetric (AD) #610031 NM_178012.4

Genes and Disorders (ref. CM panel v.2.0)

Gene OMIM number Disease (Inheritance Pattern) OMIM disease number Reference sequence
ADGRG1 (aka GPR56) *604110 Polymicrogyria, bilateral frontoparietal (AR) #606854 NM_005682.6
ARX *300382 Lissencephaly, X-linked 2 (XL) #300215 NM_139058.2
CASK *300172 Mental retardation and microcephaly with pontine and cerebellar hypoplasia (XL) #300749 NM_003688.3
DCX *300121 Lissencephaly, X-linked (XL) #300067 NM_178152.2
DYNC1H1 *600112 Mental retardation, autosomal dominant 13 (AD) #614563 NM_001376.4
LAMB1 *150240 Lissencephaly 5 (AR) #615191 NM_002291.2
NDE1 *609449 Lissencephaly 4 (with microcephaly) (AR) #614019 NM_001143979.1
OCLN *602876 Band-like calcification with simplified gyration and polymicrogyria (AR) #251290 NM_002538.3
PAFAH1B1 *601545 Lissencephaly 1 (AD) #607432 NM_000430.3
RELN *600514 Lissencephaly 2 (Norman-Roberts type) (AR) #257320 NM_005045.3
RTTN *610436 Polymicrogyria with seizures (AR) #614833 NM_173630.3
TUBA1A *602529 Lissencephaly 3 (AD) #611603 NM_006009.3
TUBA8 *605742 Polymicrogyria with optic nerve hypoplasia (AR) #613180 NM_018943.2
TUBB2B *612850 Polymicrogyria, symmetric or asymmetric (AD) #610031 NM_178012.4
TUBB3 *602661 Cortical dysplasia, complex, with other brain malformations 1 (AD) #614039 NM_006086.3
VLDLR *192977 Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 (AR) #224050 NM_003383.3