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Haploinsufficient genes, all developmental disorders. 50 highly penetrant, severe condition autosomal disease genes; 11 genes on X chromosome are highly penetrant, severe or lethal condition in males, moderate or severe condition in females. Gene used in Cummings et al. Transcript annotation paper.

lists/Transcript_annotation_Haploinsufficient_genes_61.tsv

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+CHROM	START	STOP	ENSGID	GENE_NAME
+2	166095912	166248818	ENSG00000136531.9	SCN2A
+1	8412457	8877702	ENSG00000142599.13	RERE
+12	23682440	24103966	ENSG00000134532.11	SOX5
+X	48379546	48387104	ENSG00000147155.6	EBP
+22	51112843	51171726	ENSG00000251322.3	SHANK3
+12	49412758	49453557	ENSG00000167548.10	KMT2D
+2	200134223	200335989	ENSG00000119042.12	SATB2
+17	2496504	2588909	ENSG00000007168.8	PAFAH1B1
+X	13752832	13787480	ENSG00000046651.10	OFD1
+18	42260138	42648475	ENSG00000152217.12	SETBP1
+X	48929385	48958108	ENSG00000196998.11	WDR45
+X	153769414	153796782	ENSG00000073009.8	IKBKG
+1	43391052	43424530	ENSG00000117394.15	SLC2A1
+17	17584787	17714767	ENSG00000108557.13	RAI1
+8	61591337	61779465	ENSG00000171316.7	CHD7
+X	41374187	41782716	ENSG00000147044.16	CASK
+X	133507283	133562820	ENSG00000156531.12	PHF6
+7	69063905	70258054	ENSG00000158321.11	AUTS2
+2	148778580	149275805	ENSG00000204406.7	MBD5
+1	27022524	27108595	ENSG00000117713.13	ARID1A
+15	93426526	93571237	ENSG00000173575.14	CHD2
+6	157099063	157531913	ENSG00000049618.17	ARID1B
+16	89334038	89556969	ENSG00000167522.10	ANKRD11
+17	70117161	70122561	ENSG00000125398.5	SOX9
+12	116395711	116715143	ENSG00000123066.3	MED13L
+2	166845670	166984523	ENSG00000144285.11	SCN1A
+13	115079988	115092796	ENSG00000198824.4	CHAMP1
+6	143072604	143266338	ENSG00000010818.4	HIVEP2
+X	48367350	48379202	ENSG00000102312.16	PORCN
+1	27860546	27930942	ENSG00000126705.9	AHDC1
+14	21853353	21924285	ENSG00000100888.8	CHD8
+17	44107282	44302733	ENSG00000120071.8	KANSL1
+X	153576892	153603006	ENSG00000196924.10	FLNA
+9	130374544	130457460	ENSG00000136854.13	STXBP1
+17	42927311	42977030	ENSG00000108883.8	EFTUD2
+14	29235050	29238870	ENSG00000176165.7	FOXG1
+13	100634026	100639018	ENSG00000043355.6	ZIC2
+3	71003844	71633140	ENSG00000114861.14	FOXP1
+X	39909068	40036582	ENSG00000183337.12	BCOR
+16	67596310	67673086	ENSG00000102974.10	CTCF
+12	13693165	14133053	ENSG00000273079.1	GRIN2B
+22	41487790	41576081	ENSG00000100393.9	EP300
+18	52889562	53332018	ENSG00000196628.9	TCF4
+12	46123448	46301823	ENSG00000189079.11	ARID2
+21	38738092	38889753	ENSG00000157540.15	DYRK1A
+1	61330931	61928465	ENSG00000162599.11	NFIA
+20	49505585	49547958	ENSG00000101126.11	ADNP
+3	128198270	128212028	ENSG00000179348.7	GATA2
+6	33387847	33421466	ENSG00000197283.8	SYNGAP1
+9	140513444	140764468	ENSG00000181090.13	EHMT1
+5	139487362	139496321	ENSG00000185129.4	PURA
+5	88013975	88199922	ENSG00000081189.9	MEF2C
+X	11129421	11141198	ENSG00000004961.10	HCCS
+16	3775055	3930727	ENSG00000005339.8	CREBBP
+5	36876861	37066515	ENSG00000164190.12	NIPBL
+18	19749404	19782491	ENSG00000141448.4	GATA6
+3	9439299	9520924	ENSG00000168137.11	SETD5
+X	153287024	153363212	ENSG00000169057.15	MECP2
+9	86582998	86595569	ENSG00000165119.14	HNRNPK
+2	145141648	145282147	ENSG00000169554.12	ZEB2
+3	41236328	41301587	ENSG00000168036.12	CTNNB1